BARD1 (Q99728) variants and mutations
BARD1 (also known as Q99728) is a human protein-coding gene encoding a BRCA1-associated RING domain protein 1 protein. It forms a heterodimer with BRCA1 that supports homologous recombination, DNA-damage signaling, and ubiquitin-dependent regulation at damaged chromatin. Germline loss-of-function variants confer increased breast-cancer susceptibility, particularly for some aggressive subtypes. This analysis covers 2,631 BARD1 variants and mutations. Of these, 74% have computational variant effect predictions. Disease context includes Hereditary breast cancer, hereditary breast carcinoma, and BARD1-related cancer predisposition. Example BARD1 variants include M1I, M1T, and M1V.
Variant analysis overview
- Gene: BARD1
- Protein: Q99728
- UniProt accession: Q99728
- Organism: Homo sapiens
- Variants analyzed: 2631
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 2,469 unspecified-consequence records; 2 stop retained variant; 83 synonymous variants; 20 frameshift variants; 43 missense variants; 4 stop-gained variants; 5 in-frame deletions; 2 splice-region variants; 1 stop lost; 2 substitution
- Prediction scores: 1,960 variants have prediction scores (74% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Hereditary breast cancer, hereditary breast carcinoma, BARD1-related cancer predisposition, breast cancer, susceptibility to breast cancer, Inherited cancer-predisposing syndrome, hereditary neoplastic syndrome, cancer, Hereditary breast and ovarian cancer syndrome, neuroblastoma, hereditary breast ovarian cancer syndrome, gastric cancer.
Protein structure and variant hotspots
- Protein features: 2 domains; 4 post-translational modification sites.
- Structural context: 784 variants have structural context.
- PTM context: 12 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable BARD1 variants
Examples include M1I, M1T, M1V, P2A, P2L, P2R, P2S, D3A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs587780031, ClinGen CA287547, ClinVar RCV000115635, ClinVar RCV001216890, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not provided; Familial cancer of breast
- M1T (p.Met1Thr), rs1553628504, ClinGen CA350465532, ClinVar RCV000550807, ClinVar RCV000985352, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast; not provided
- M1V (p.Met1Val), rs528321749, ClinGen CA2090537, ClinVar RCV002631547, Uncertain significance, Familial cancer of breast
- P2A (p.Pro2Ala), rs1574870196, ClinGen CA350465521, ClinVar RCV001309161, ClinVar RCV005520488, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast
- P2L (p.Pro2Leu), rs1574870182, ClinGen CA350465514, cosmic curated COSV99640, ClinVar RCV001024781, REVEL 0.19, CADD 16.10, Uncertain significance, not specified; Hereditary cancer-predisposing syndrome; Familial cancer of breas
- P2R (p.Pro2Arg), rs1574870182, ClinGen CA350465516, ClinVar RCV003585987, Uncertain significance, Hereditary cancer-predisposing syndrome
- P2S (p.Pro2Ser), rs1574870196, ClinGen CA350465520, ClinVar RCV000810042, Ensembl rs1574870196, REVEL 0.30, CADD 22.80, Uncertain significance, Familial cancer of breast
- D3A (p.Asp3Ala), rs2106172126, ClinGen CA350465507, ClinVar RCV001804454, Ensembl rs2106172126, Uncertain significance, Hereditary cancer-predisposing syndrome
- D3E (p.Asp3Glu), rs1574870148, ClinGen CA350465498, ClinVar RCV003500958, Ensembl rs1574870148, Uncertain significance, not provided
- D3H (p.Asp3His), rs1060501282, ClinGen CA16610763, ClinVar RCV000457836, Ensembl rs1060501282, Uncertain significance, Familial cancer of breast
- D3N (p.Asp3Asn), rs1060501282, ClinGen CA350465510, ClinVar RCV000505858, ClinVar RCV000776717, Uncertain significance, Hereditary cancer-predisposing syndrome; not specified; Familial cancer of breas
- D3V (p.Asp3Val), rs2106172126, ClinGen CA350465503, ClinVar RCV002838622, Uncertain significance, Familial cancer of breast
- D3Y (p.Asp3Tyr), rs1060501282, ClinGen CA350465512, ClinVar RCV000708909, ClinVar RCV002422616, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast
- N4K (p.Asn4Lys), rs1289598310, ClinGen CA350465479, ClinVar RCV002296563, gnomAD rs1289598310, Uncertain significance, Familial cancer of breast
- N4T (p.Asn4Thr), rs2469640337, ClinGen CA350465489, ClinVar RCV002899101, Uncertain significance, Familial cancer of breast
- R5G (p.Arg5Gly), gnomAD rs766441081, Benign
- R5P (p.Arg5Pro), rs587782499, ClinGen CA168497, ClinVar RCV000131628, Ensembl rs587782499, Uncertain significance, Hereditary cancer-predisposing syndrome
- R5Q (p.Arg5Gln), rs587782499, ClinGen CA350465470, ClinVar RCV000772623, Ensembl rs587782499, REVEL 0.18, CADD 0.76, Uncertain significance, Hereditary cancer-predisposing syndrome
- R5W (p.Arg5Trp), rs766441081, ClinGen CA350465476, ClinVar RCV000539389, ClinVar RCV000579496, REVEL 0.27, CADD 18.40, Uncertain significance, Familial cancer of breast; Hereditary cancer-predisposing syndrome
- Q6* (p.Gln6Ter), rs876658234, ClinGen CA350465459, cosmic curated COSV10941, ClinVar RCV001938338, CADD 35.00, Pathogenic
- Q6K (p.Gln6Lys), rs876658234, ClinGen CA10577873, ClinVar RCV000223621, ClinVar RCV003607258, REVEL 0.16, CADD 2.68, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast
- Q6L (p.Gln6Leu), rs864622229, ClinGen CA350465453, ClinVar RCV001301889, TOPMed rs864622229, Uncertain significance, Familial cancer of breast
- Q6R (p.Gln6Arg), rs864622229, ClinGen CA349212, ClinVar RCV000205048, ClinVar RCV002408888, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast
- P7A (p.Pro7Ala), TOPMed rs1158534804, gnomAD rs1158534804, Uncertain significance
- P7L (p.Pro7Leu), NCI-TCGA Cosmic COSV5361, cosmic curated COSV53616, REVEL 0.26, CADD 17.20, Uncertain significance, Hereditary cancer-predisposing syndrome
- P7R (p.Pro7Arg), rs1696475875, ClinGen CA350465436, ClinVar RCV001037388, ClinVar RCV001184674, REVEL 0.26, CADD 16.80, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Familial cancer of breast
- P7S (p.Pro7Ser), rs1158534804, ClinGen CA350465444, ClinVar RCV000773192, ClinVar RCV001214570, REVEL 0.19, CADD 18.20, Uncertain significance, Familial cancer of breast; not provided; Hereditary cancer-predisposing syndrome
- R8K (p.Arg8Lys), rs1696475444, ClinGen CA350465426, ClinVar RCV001348017, ClinVar RCV005762280, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast
- R8S (p.Arg8Ser), rs1696475305, ClinGen CA350465416, ClinVar RCV001051383, ClinVar RCV003584809, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast
- R8T (p.Arg8Thr), rs1696475444, ClinGen CA350465424, ClinVar RCV003318203, ClinVar RCV003585377, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided
- N9K (p.Asn9Lys), rs1038616344, ClinGen CA350465399, ClinVar RCV001308664, TOPMed rs1038616344, REVEL 0.12, CADD 21.10, Uncertain significance, not specified; Familial cancer of breast; Hereditary cancer-predisposing syndrom
- N9S (p.Asn9Ser), TOPMed rs1696475019, REVEL 0.18, CADD 5.55, Likely benign, Hereditary cancer-predisposing syndrome
- R10P (p.Arg10Pro), rs2106171963, ClinGen CA350465389, ClinVar RCV001524056, ClinVar RCV005094677, Uncertain significance, Familial cancer of breast; Hereditary cancer-predisposing syndrome
- R10Q (p.Arg10Gln), cosmic curated COSV10638, Ensembl rs2106171963, REVEL 0.11, CADD 22.40, Uncertain significance
- R10W (p.Arg10Trp), rs1425810692, ClinGen CA350465395, ClinVar RCV000693386, gnomAD rs1425810692, REVEL 0.34, CADD 25.40, Uncertain significance, Familial cancer of breast
- Q11* (p.Gln11Ter), Ensembl rs2106171942, CADD 40.00
- Q11H (p.Gln11His), rs143914387, ClinGen CA287543, ClinVar RCV000115633, ClinVar RCV000195673, REVEL 0.16, CADD 15.40, Conflicting interpretations, Breast and/or ovarian cancer; Hereditary cancer-predisposing syndrome; not speci
- Q11L (p.Gln11Leu), rs1696474319, ClinGen CA350465374, ClinVar RCV001977341, Ensembl rs1696474319, Uncertain significance, Familial cancer of breast
- Q11P (p.Gln11Pro), rs1696474319, ClinGen CA350465372, ClinVar RCV001349713, Ensembl rs1696474319, Uncertain significance, Familial cancer of breast
- Q11R (p.Gln11Arg), rs1692289600, gnomAD 2-214730249-T-C, CADD 20.30
- Q11K (p.Gln11Lys), gnomAD 2-214730250-G-T, CADD 19.00
- P12A (p.Pro12Ala), rs1182316664, ClinGen CA350465363, ClinVar RCV000776358, ClinVar RCV001211118, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast
- P12L (p.Pro12Leu), rs786203647, ClinGen CA197372, cosmic curated COSV10638, ClinVar RCV000167050, REVEL 0.12, CADD 15.90, Uncertain significance, Familial cancer of breast; Hereditary cancer-predisposing syndrome
- P12R (p.Pro12Arg), rs786203647, ClinGen CA350465355, ClinVar RCV001052296, ClinVar RCV006274127, Uncertain significance, not specified; Familial cancer of breast
- P12S (p.Pro12Ser), rs1182316664, ClinGen CA350465361, cosmic curated COSV99637, ClinVar RCV002658424, REVEL 0.23, CADD 22.90, Uncertain significance, Familial cancer of breast
- P12T (p.Pro12Thr), gnomAD rs1182316664, REVEL 0.26, CADD 23.80, Uncertain significance
- R13K (p.Arg13Lys), rs587781713, ClinGen CA165296, ClinVar RCV000129890, ClinVar RCV000705395, REVEL 0.14, CADD 11.80, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast
- R13S (p.Arg13Ser), rs770217979, ClinGen CA350465339, ClinVar RCV002918079, Uncertain significance, Familial cancer of breast
- R13T (p.Arg13Thr), rs587781713, ClinGen CA16617463, ClinVar RCV000481983, ClinVar RCV000701419, REVEL 0.20, CADD 12.90, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast; not provided
- I14M (p.Ile14Met), rs746266678, ClinGen CA350465312, ClinVar RCV001213115, ClinVar RCV002327496, Uncertain significance, Familial cancer of breast; Hereditary cancer-predisposing syndrome
- I14N (p.Ile14Asn), Ensembl rs1574869913
- I14V (p.Ile14Val), cosmic curated COSV99637, Ensembl rs2106171856
- R15C (p.Arg15Cys), rs1553628470, ClinGen CA350465304, ClinVar RCV000635651, ClinVar RCV002331138, REVEL 0.15, CADD 22.60, Uncertain significance, Familial cancer of breast; Hereditary cancer-predisposing syndrome
- R15H (p.Arg15His), rs545107676, ClinGen CA350465299, cosmic curated COSV10583, ClinVar RCV001022589, REVEL 0.37, CADD 20.40, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast
- R15L (p.Arg15Leu), rs545107676, ClinGen CA2090533, ClinVar RCV000553541, ClinVar RCV000564637, REVEL 0.30, CADD 22.50, Likely benign, not provided; Familial cancer of breast; Hereditary cancer-predisposing syndrome
- R15P (p.Arg15Pro), rs545107676, ClinGen CA350465301, ClinVar RCV001918396, 1000Genomes rs545107676, Uncertain significance, Familial cancer of breast
- R15S (p.Arg15Ser), rs1553628470, ClinGen CA350465306, ClinVar RCV000571317, ClinVar RCV001858246, REVEL 0.28, CADD 23.00, Uncertain significance, Familial cancer of breast; Hereditary cancer-predisposing syndrome
- S16A (p.Ser16Ala), rs2469639726, ClinGen CA350465282, ClinVar RCV004518514, REVEL 0.33, CADD 23.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- S16C (p.Ser16Cys), rs1326565823, ClinGen CA350465278, ClinVar RCV001316872, ClinVar RCV002329272, REVEL 0.37, CADD 25.30, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast
- S16F (p.Ser16Phe), rs1326565823, ClinGen CA350465276, ClinVar RCV001023077, ClinVar RCV001873364, REVEL 0.37, CADD 25.60, Uncertain significance, Familial cancer of breast; Hereditary cancer-predisposing syndrome
- S16Y (p.Ser16Tyr), rs1326565823, ClinGen CA350465280, ClinVar RCV003585986, TOPMed rs1326565823, REVEL 0.32, CADD 25.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- G17A (p.Gly17Ala), Ensembl rs1574869785, Uncertain significance
- G17E (p.Gly17Glu), Ensembl rs1574869785, Uncertain significance, Hereditary cancer-predisposing syndrome
- G17R (p.Gly17Arg), rs746495820, ClinGen CA335997, ClinVar RCV000195854, ClinVar RCV002336542, REVEL 0.48, CADD 23.20, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast
- G17V (p.Gly17Val), rs1574869785, ClinGen CA350465268, ClinVar RCV001023545, ClinVar RCV002551877, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast
- G17W (p.Gly17Trp), rs746495820, ClinGen CA350465269, ClinVar RCV002756023, REVEL 0.46, CADD 25.80, Uncertain significance, Familial cancer of breast
- N18I (p.Asn18Ile), rs1064793727, ClinGen CA350465251, ClinVar RCV000708908, Ensembl rs1064793727, Uncertain significance, Familial cancer of breast
- N18K (p.Asn18Lys), rs587780032, ClinGen CA287549, ClinVar RCV000115636, ClinVar RCV000535960, REVEL 0.33, CADD 23.10, Conflicting interpretations, not provided; Hereditary cancer-predisposing syndrome; Familial cancer of breast
- N18S (p.Asn18Ser), rs1064793727, ClinGen CA16617462, ClinVar RCV000485258, ClinVar RCV002525791, Uncertain significance, Familial cancer of breast; not provided
- N18T (p.Asn18Thr), Ensembl rs1064793727, Uncertain significance
- E19* (p.Glu19Ter), rs752514155, ClinGen CA2090530, ClinVar RCV000215389, ClinVar RCV000458694, CADD 33.00, Pathogenic
- E19D (p.Glu19Asp), rs730881406, ClinGen CA16617461, ClinVar RCV000486017, ClinVar RCV000525385, REVEL 0.25, CADD 18.30, Uncertain significance, BARD1-related cancer predisposition; not provided; Hereditary cancer-predisposin
- E19G (p.Glu19Gly), Ensembl rs2106171668
- E19K (p.Glu19Lys), rs752514155, ClinGen CA350465244, ClinVar RCV000635706, ClinVar RCV001024312, REVEL 0.22, CADD 5.32, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Familial cancer of breast
- E19Q (p.Glu19Gln), ExAC rs752514155, TOPMed rs752514155, gnomAD rs752514155, REVEL 0.25, CADD 0.68, Uncertain significance, Familial cancer of breast
- P20A (p.Pro20Ala), rs1326795982, ClinGen CA350465227, ClinVar RCV002029703, gnomAD rs1326795982, Uncertain significance, Familial cancer of breast
- P20L (p.Pro20Leu), rs753686197, ClinGen CA2090528, ClinVar RCV000233249, ClinVar RCV000774689, REVEL 0.20, CADD 19.70, Conflicting interpretations, Hereditary cancer-predisposing syndrome; BARD1-related cancer predisposition; no
- P20R (p.Pro20Arg), rs753686197, ClinGen CA350465220, ClinVar RCV001024775, ClinVar RCV002295325, REVEL 0.18, CADD 19.30, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast
- P20S (p.Pro20Ser), rs1326795982, ClinGen CA350465225, ClinVar RCV000793221, gnomAD rs1326795982, Uncertain significance, Familial cancer of breast
- P20T (p.Pro20Thr), rs1326795982, ClinGen CA350465228, ClinVar RCV001024662, gnomAD rs1326795982, Uncertain significance, Hereditary cancer-predisposing syndrome
- R21C (p.Arg21Cys), rs864622206, ClinGen CA10577868, cosmic curated COSV53615, ClinVar RCV000222789, REVEL 0.10, CADD 4.18, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast; not provided
- R21G (p.Arg21Gly), rs864622206, ClinGen CA350284, cosmic curated COSV53612, ClinVar RCV000206223, REVEL 0.10, CADD 0.68, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Familial cancer of breast
- R21L (p.Arg21Leu), rs1696468454, ClinGen CA350465210, ClinVar RCV002368785, NCI-TCGA Cosmic COSV5361, REVEL 0.16, CADD 6.90, Uncertain significance, Hereditary cancer-predisposing syndrome
- R21P (p.Arg21Pro), rs1696468454, ClinGen CA350465208, ClinVar RCV001314585, ClinVar RCV002357129, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Familial cancer of breast
- R21S (p.Arg21Ser), rs864622206, ClinGen CA350465215, ClinVar RCV000822770, ClinVar RCV002352464, REVEL 0.14, CADD 0.50, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast
- S22F (p.Ser22Phe), rs876659724, ClinGen CA10577867, ClinVar RCV000221004, ClinVar RCV001057783, REVEL 0.25, CADD 22.60, Uncertain significance, Familial cancer of breast; Hereditary cancer-predisposing syndrome; not provided
- S22T (p.Ser22Thr), rs2469639347, ClinGen CA350465202, ClinVar RCV002364139, Uncertain significance, Hereditary cancer-predisposing syndrome
- S22Y (p.Ser22Tyr), rs876659724, ClinGen CA350465195, ClinVar RCV003176969, REVEL 0.25, CADD 22.30, Uncertain significance, Hereditary cancer-predisposing syndrome
- A23P (p.Ala23Pro), ExAC rs767698684, gnomAD rs767698684
- A23S (p.Ala23Ser), rs767698684, ClinGen CA350465184, ClinVar RCV002369486, Uncertain significance, Hereditary cancer-predisposing syndrome
- A23T (p.Ala23Thr), ExAC rs767698684, gnomAD rs767698684, REVEL 0.24, CADD 17.90
- A23V (p.Ala23Val), rs1696467337, ClinGen CA350465173, ClinVar RCV001058454, ClinVar RCV001187724, REVEL 0.18, CADD 15.10, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast
- P24A (p.Pro24Ala), rs1048108, ClinGen CA350465166, ClinVar RCV002367348, ClinVar RCV003896146, REVEL 0.28, CADD 17.90, Uncertain significance, Hereditary cancer-predisposing syndrome
- P24L (p.Pro24Leu), TOPMed rs863224674, gnomAD rs863224674, REVEL 0.25, CADD 21.80, Uncertain significance
- P24R (p.Pro24Arg), rs863224674, ClinGen CA336143, ClinVar RCV000196061, ClinVar RCV000219522, REVEL 0.24, CADD 21.40, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not provided; Familial cancer of breast
- P24S (p.Pro24Ser), rs2106171516, ClinGen CA2573135151, ClinVar RCV002172691, Ensembl rs2106171516, REVEL 0.26, CADD 19.30, Benign, Familial cancer of breast; not specified; Hereditary cancer-predisposing syndrom
- A25P (p.Ala25Pro), rs751646468, ClinGen CA333878, ClinVar RCV000164946, ClinVar RCV000203712, REVEL 0.29, CADD 13.80, Conflicting interpretations, BARD1-related cancer predisposition; Hereditary cancer-predisposing syndrome; no
- A25S (p.Ala25Ser), rs751646468, ClinGen CA350465155, ClinVar RCV004518522, REVEL 0.20, CADD 7.32, Uncertain significance, Hereditary cancer-predisposing syndrome
- A25T (p.Ala25Thr), rs751646468, ClinGen CA350465158, ClinVar RCV001047714, ExAC rs751646468, REVEL 0.18, CADD 10.80, Uncertain significance, Familial cancer of breast
- A25V (p.Ala25Val), rs764023867, ClinGen CA2090525, ClinVar RCV001207927, ClinVar RCV005520451, REVEL 0.20, CADD 15.30, Uncertain significance, Familial cancer of breast; Hereditary cancer-predisposing syndrome
- M26L (p.Met26Leu), rs587781570, ClinGen CA350465148, ClinVar RCV001241839, 1000Genomes rs587781570, REVEL 0.47, CADD 22.90, Uncertain significance, Familial cancer of breast
- M26R (p.Met26Arg), rs759957629, ClinGen CA2090523, ClinVar RCV000579822, ClinVar RCV000635902, REVEL 0.51, CADD 23.40, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast; not provided
- M26T (p.Met26Thr), rs759957629, ClinGen CA2090522, cosmic curated COSV10807, ClinVar RCV001950295, REVEL 0.47, CADD 23.90, Uncertain significance, Familial cancer of breast; Hereditary cancer-predisposing syndrome
- M26V (p.Met26Val), rs587781570, ClinGen CA164756, cosmic curated COSV10941, ClinVar RCV000129604, REVEL 0.44, CADD 23.80, Uncertain significance, Hereditary cancer-predisposing syndrome; not specified; not provided
- E27* (p.Glu27Ter), rs587780037, ClinGen CA350465133, ClinVar RCV000508001, ClinVar RCV000574708, CADD 39.00, Pathogenic
- E27A (p.Glu27Ala), rs989352819, ClinGen CA64810363, ClinVar RCV000559324, ClinVar RCV000572709, REVEL 0.18, CADD 20.30, Uncertain significance, Familial cancer of breast; Hereditary cancer-predisposing syndrome; not provided
- E27G (p.Glu27Gly), Ensembl rs989352819, Uncertain significance
- E27K (p.Glu27Lys), cosmic curated COSV53608, ExAC rs587780037, TOPMed rs587780037, gnomAD rs587780037, Pathogenic
- E27Q (p.Glu27Gln), rs587780037, ClinGen CA287558, ClinVar RCV000115644, ClinVar RCV000204805, REVEL 0.18, CADD 19.20, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not specified; not provided
- E27V (p.Glu27Val), rs989352819, ClinGen CA350465128, ClinVar RCV001185081, Ensembl rs989352819, Uncertain significance, Hereditary cancer-predisposing syndrome
- P28A (p.Pro28Ala), rs770702450, ClinGen CA10581944, ClinVar RCV000231788, ClinVar RCV001184072, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Familial cancer of breast
- P28L (p.Pro28Leu), rs1696463841, ClinGen CA350465114, ClinVar RCV001997921, TOPMed rs1696463841, REVEL 0.25, CADD 22.70, Uncertain significance, Familial cancer of breast
- P28S (p.Pro28Ser), rs770702450, ClinGen CA10577865, ClinVar RCV000220176, ExAC rs770702450, Uncertain significance, Hereditary cancer-predisposing syndrome
- P28T (p.Pro28Thr), rs770702450, ClinGen CA2090521, ClinVar RCV000221427, ClinVar RCV000765600, REVEL 0.35, CADD 21.40, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Familial cancer of breast
- D29A (p.Asp29Ala), rs777491507, ClinGen CA2090519, ClinVar RCV000695298, ClinVar RCV000774688, REVEL 0.12, CADD 9.72, Conflicting interpretations, not provided; Hereditary cancer-predisposing syndrome; Familial cancer of breast
- D29E (p.Asp29Glu), rs1559454445, ClinGen CA350465100, ClinVar RCV000774819, Ensembl rs1559454445, Uncertain significance, Hereditary cancer-predisposing syndrome
- D29G (p.Asp29Gly), rs777491507, ClinGen CA350465105, ClinVar RCV001018202, ExAC rs777491507, Uncertain significance, Hereditary cancer-predisposing syndrome
- D29N (p.Asp29Asn), rs1553628425, ClinGen CA350465112, ClinVar RCV000635641, ClinVar RCV001018080, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast
- D29V (p.Asp29Val), rs777491507, ClinGen CA10577864, ClinVar RCV000217089, ClinVar RCV000560249, Conflicting interpretations, Familial cancer of breast; Hereditary cancer-predisposing syndrome; not provided
- D29Y (p.Asp29Tyr), NCI-TCGA Cosmic COSV9963, cosmic curated COSV99638, REVEL 0.11, CADD 21.20, Variant assessed as somatic; moderate impact.
- G30C (p.Gly30Cys), rs1696463008, ClinGen CA350465092, ClinVar RCV001231098, ClinVar RCV003166408, REVEL 0.20, CADD 23.00, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast
- G30S (p.Gly30Ser), rs1696463008, ClinGen CA350465095, ClinVar RCV002376059, Uncertain significance, Hereditary cancer-predisposing syndrome
- R31C (p.Arg31Cys), rs1064795053, ClinGen CA16617460, cosmic curated COSV53608, ClinVar RCV000480635, REVEL 0.21, CADD 9.90, Uncertain significance, not provided; Familial cancer of breast; Hereditary cancer-predisposing syndrome
- R31G (p.Arg31Gly), rs1064795053, ClinGen CA350465078, ClinVar RCV000701631, ClinVar RCV002442507, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast
- R31H (p.Arg31His), rs2469638482, ClinGen CA350465074, ClinVar RCV003477433, REVEL 0.17, CADD 7.63, Uncertain significance, not provided
- G32C (p.Gly32Cys), rs1224914625, ClinGen CA350465066, ClinVar RCV003024460, TOPMed rs1224914625, REVEL 0.43, CADD 24.10, Uncertain significance, Familial cancer of breast
- G32D (p.Gly32Asp), TOPMed rs587782675, gnomAD rs587782675, REVEL 0.36, CADD 23.40, Likely benign
- G32R (p.Gly32Arg), rs1224914625, ClinGen CA350465064, ClinVar RCV000805742, TOPMed rs1224914625, Uncertain significance, Familial cancer of breast
- G32S (p.Gly32Ser), rs1224914625, ClinGen CA350465063, ClinVar RCV000819644, ClinVar RCV003307546, REVEL 0.29, CADD 23.70, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast
- G32V (p.Gly32Val), rs587782675, ClinGen CA169260, ClinVar RCV000132101, ClinVar RCV000542693, REVEL 0.38, CADD 23.10, Conflicting interpretations, Hereditary cancer-predisposing syndrome; BARD1-related cancer predisposition; no
- A33G (p.Ala33Gly), rs1559454402, ClinGen CA350465042, ClinVar RCV000774375, ClinVar RCV002466579, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Familial cancer of breast
- A33P (p.Ala33Pro), rs587782465, ClinGen CA168351, ClinVar RCV000131555, ClinVar RCV000235721, REVEL 0.19, CADD 15.90, Conflicting interpretations, BARD1-related cancer predisposition; Hereditary cancer-predisposing syndrome; no
- A33S (p.Ala33Ser), rs587782465, ClinGen CA350465047, ClinVar RCV001968632, ClinVar RCV002386824, REVEL 0.07, CADD 14.40, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast
- A33T (p.Ala33Thr), ExAC rs587782465, TOPMed rs587782465, gnomAD rs587782465, Uncertain significance
- A33V (p.Ala33Val), rs1559454402, ClinGen CA350465041, ClinVar RCV000802933, ClinVar RCV002386435, REVEL 0.12, CADD 17.40, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Familial cancer of breast; not specifie
- W34* (p.Trp34Ter), rs876659387, ClinGen CA350465031, ClinVar RCV003335654, ClinVar RCV004949079, CADD 42.00, Pathogenic
- W34G (p.Trp34Gly), rs955904953, ClinGen CA350465034, ClinVar RCV002435524, Uncertain significance, Hereditary cancer-predisposing syndrome
- W34L (p.Trp34Leu), rs876659387, ClinGen CA64810304, cosmic curated COSV10609, ClinVar RCV003607938, REVEL 0.54, CADD 28.40, Uncertain significance, Familial cancer of breast
- W34R (p.Trp34Arg), rs955904953, ClinGen CA350465035, ClinVar RCV001220619, TOPMed rs955904953, REVEL 0.60, CADD 28.30, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast
- W34S (p.Trp34Ser), rs876659387, ClinGen CA10577863, ClinVar RCV000222082, ClinVar RCV001853560, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast
- A35D (p.Ala35Asp), rs786203646, ClinGen CA350465018, ClinVar RCV001295933, ClinVar RCV002402822, REVEL 0.22, CADD 22.60, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast
- A35G (p.Ala35Gly), rs786203646, ClinGen CA350465020, ClinVar RCV001973798, ClinVar RCV003170295, REVEL 0.24, CADD 22.60, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast
- A35S (p.Ala35Ser), rs587782865, ClinGen CA350465022, ClinVar RCV003044009, REVEL 0.18, CADD 20.60, Uncertain significance, Familial cancer of breast
- A35T (p.Ala35Thr), rs587782865, ClinGen CA169934, ClinVar RCV000132488, ClinVar RCV001849947, REVEL 0.19, CADD 22.20, Uncertain significance, not specified; Hereditary cancer-predisposing syndrome; Familial cancer of breas
- A35V (p.Ala35Val), rs786203646, ClinGen CA197370, ClinVar RCV000167049, ClinVar RCV001316626, REVEL 0.16, CADD 22.80, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast
- H36D (p.His36Asp), rs2106171164, ClinGen CA350465006, ClinVar RCV002001181, ClinVar RCV002407242, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast
- H36L (p.His36Leu), gnomAD rs864622635, Uncertain significance
- H36P (p.His36Pro), rs864622635, ClinGen CA10577862, ClinVar RCV000216692, ClinVar RCV000478195, REVEL 0.36, CADD 26.70, Uncertain significance, not provided; Hereditary cancer-predisposing syndrome; Familial cancer of breast
- H36Q (p.His36Gln), rs1445402241, ClinGen CA350464996, ClinVar RCV001017240, TOPMed rs1445402241, REVEL 0.34, CADD 25.30, Uncertain significance, Hereditary cancer-predisposing syndrome
- H36R (p.His36Arg), rs864622635, ClinGen CA349168, ClinVar RCV000204988, ClinVar RCV000569999, REVEL 0.26, CADD 22.00, Uncertain significance, BARD1-related cancer predisposition; Hereditary cancer-predisposing syndrome; no
- H36H (p.His36His), rs1398986057, gnomAD 2-214730257-G-A, CADD 15.60
- H36N (p.His36Asn), gnomAD 2-214730259-G-T, CADD 17.60, SIFT 0.60
- H36Y (p.His36Tyr), gnomAD 2-214730259-G-A, CADD 17.00, SIFT 0.06
- S37C (p.Ser37Cys), rs1064793565, ClinGen CA350464991, ClinVar RCV003176974, Uncertain significance, Hereditary cancer-predisposing syndrome
- S37G (p.Ser37Gly), rs1064793565, ClinGen CA16617459, ClinVar RCV000486197, ClinVar RCV000810328, Uncertain significance, Familial cancer of breast; Hereditary cancer-predisposing syndrome; not provided
- S37N (p.Ser37Asn), TOPMed rs1283611933, gnomAD rs1283611933, Uncertain significance
- S37R (p.Ser37Arg), rs1064793565, ClinGen CA350464993, ClinVar RCV002430738, REVEL 0.49, CADD 24.30, Uncertain significance, Hereditary cancer-predisposing syndrome
- S37T (p.Ser37Thr), rs1283611933, ClinGen CA350464987, ClinVar RCV001055004, ClinVar RCV001759801, REVEL 0.29, CADD 18.50, Uncertain significance, Familial cancer of breast; not provided
- R38C (p.Arg38Cys), rs1553628385, ClinGen CA350464977, ClinVar RCV000573431, ClinVar RCV001867876, Uncertain significance, Hereditary breast ovarian cancer syndrome; Familial cancer of breast; Hereditary
- R38G (p.Arg38Gly), rs1553628385, ClinGen CA350464975, ClinVar RCV000580923, ClinVar RCV000635729, REVEL 0.54, CADD 25.10, Uncertain significance, Familial cancer of breast; Hereditary cancer-predisposing syndrome
- R38H (p.Arg38His), rs2106171086, ClinGen CA350464972, ClinVar RCV002030247, Ensembl rs2106171086, Uncertain significance, Familial cancer of breast; Hereditary cancer-predisposing syndrome
- R38P (p.Arg38Pro), rs2106171086, ClinGen CA350464970, ClinVar RCV002451904, ClinVar RCV003607454, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast
- R38S (p.Arg38Ser), rs1553628385, ClinGen CA350464974, ClinVar RCV001342678, ClinVar RCV004601462, REVEL 0.50, CADD 27.40, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Familial cancer of breast
- A39P (p.Ala39Pro), ExAC rs753630023, gnomAD rs753630023, Uncertain significance
- A39S (p.Ala39Ser), cosmic curated COSV10729, ExAC rs753630023, gnomAD rs753630023, REVEL 0.25, CADD 21.90, Uncertain significance
- A39T (p.Ala39Thr), rs753630023, ClinGen CA2090516, ClinVar RCV001010024, ClinVar RCV001242352, REVEL 0.27, CADD 23.60, Uncertain significance, Familial cancer of breast; Hereditary cancer-predisposing syndrome; not provided
- A39V (p.Ala39Val), rs779885670, ClinGen CA2090515, ClinVar RCV000807799, ClinVar RCV005298622, REVEL 0.28, CADD 23.00, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast
- A40T (p.Ala40Thr), rs1553628378, ClinGen CA350464949, ClinVar RCV000572951, ClinVar RCV005091292, Uncertain significance, Familial cancer of breast; Hereditary cancer-predisposing syndrome
- A40V (p.Ala40Val), rs71579841, ClinGen CA333289, cosmic curated COSV53612, ClinVar RCV000132381, REVEL 0.45, CADD 27.90, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not specified; not provided
- L41F (p.Leu41Phe), rs751665426, ClinGen CA192544, ClinVar RCV000165112, ClinVar RCV000236804, REVEL 0.33, CADD 24.30, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Familial cancer of breast
- L41P (p.Leu41Pro), rs2106170996, ClinGen CA350464936, ClinVar RCV003368094, Uncertain significance, Hereditary cancer-predisposing syndrome
- L41R (p.Leu41Arg), rs2106170996, ClinGen CA350464934, ClinVar RCV002259223, Ensembl rs2106170996, Uncertain significance, Hereditary cancer-predisposing syndrome
- L41V (p.Leu41Val), rs751665426, ClinGen CA2090514, ClinVar RCV000214427, ClinVar RCV000230109, REVEL 0.28, CADD 22.50, Uncertain significance, Hereditary cancer-predisposing syndrome; not specified; Familial cancer of breas
- L41L (p.Leu41Leu), gnomAD 2-214730269-C-A, CADD 22.40
- L41Q (p.Leu41Gln), gnomAD 2-214730270-A-T, CADD 20.20, SIFT 0.00
- L41M (p.Leu41Met), gnomAD 2-214730271-G-T, CADD 20.50, SIFT 0.00
- L41S (p.Leu41Ser), gnomAD 2-214730276-A-G, CADD 22.40, SIFT 0.52
- L41W (p.Leu41Trp), gnomAD 2-214730276-A-C, CADD 22.50, SIFT 0.01
- D42A (p.Asp42Ala), Ensembl rs2106170971, Uncertain significance
- D42G (p.Asp42Gly), rs2106170971, ClinGen CA350464924, ClinVar RCV003608614, Ensembl rs2106170971, Uncertain significance, Familial cancer of breast
Public BARD1 analysis runs
- BARD1 analysis run — BARD1 (2,631 variants) — completed 2026-08-18