BRIP1 (Fanconi anemia group J protein) variants and mutations
BRIP1 (also known as Fanconi anemia group J protein) is a human protein-coding gene encoding a fanconi anemia group J protein. It unwinds DNA structures and works with BRCA1 and the Fanconi-anemia pathway to repair damaged replication intermediates and interstrand crosslinks. Biallelic loss causes Fanconi anemia group J, while heterozygous loss-of-function variants increase ovarian-cancer risk. This analysis covers 5,854 BRIP1 variants and mutations. Of these, 53% have computational variant effect predictions. Disease context includes Fanconi anemia complementation group J, Fanconi anemia, and breast cancer. Example BRIP1 variants include M1L, M1V, and S2C.
Variant analysis overview
- Gene: BRIP1
- Protein: Fanconi anemia group J protein
- UniProt accession: Q9BX63
- Organism: Homo sapiens
- Variants analyzed: 5854
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 5,635 unspecified-consequence records; 134 synonymous variants; 37 missense variants; 31 frameshift variants; 5 in-frame deletions; 2 in-frame insertions; 1 protein altering variant; 4 stop-gained variants; 3 stop lost; 1 stop retained variant; 1 splice-region variants
- Prediction scores: 3,131 variants have prediction scores (53% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Fanconi anemia complementation group J, Fanconi anemia, breast cancer, familial ovarian cancer, hereditary breast carcinoma, Hereditary breast cancer, ovarian cancer, Inherited cancer-predisposing syndrome, Hereditary breast and ovarian cancer syndrome, hereditary neoplastic syndrome, hereditary breast ovarian cancer syndrome, breast carcinoma.
Protein structure and variant hotspots
- Protein features: 1 domains; 5 binding sites; 9 post-translational modification sites.
- Structural context: 1,961 variants have structural context.
- PTM context: 39 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 BRIP1 variants
Examples include M1L, M1V, S2C, S2F, S2T, S3*, S3L, S3T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1L (p.Met1Leu), rs764585550, ClinGen CA400486103, ClinVar RCV000581042, ClinGen CA400486104, MetaLR 0.53, MetaSVM -0.25, Uncertain significance, Hereditary cancer-predisposing syndrome
- M1V (p.Met1Val), rs764585550, ClinGen CA197496, ClinVar RCV000167101, ClinVar RCV000410570, MetaLR 0.53, MetaSVM -0.25, Pathogenic
- S2C (p.Ser2Cys), Ensembl rs751194347, Uncertain significance
- S2F (p.Ser2Phe), rs751194347, ClinGen CA292281864, cosmic curated COSV51998, ClinVar RCV000562127, AlphaMissense 0.12, MetaLR 0.58, Uncertain significance, Fanconi anemia complementation group J; Familial cancer of breast; Hereditary ca
- S2T (p.Ser2Thr), Ensembl rs2145866405
- S3* (p.Ser3Ter), rs1603368491, Ensembl rs1603368491, ClinGen CA400486087, ClinVar RCV001306224, AlphaMissense 0.13, MetaLR 0.40, Pathogenic
- S3L (p.Ser3Leu), rs1603368491, ClinGen CA400486088, ClinVar RCV001018622, Ensembl rs1603368491, REVEL 0.37, AlphaMissense 0.13, Uncertain significance, Hereditary cancer-predisposing syndrome
- S3T (p.Ser3Thr), Ensembl rs2145866353
- M4I (p.Met4Ile), rs1386396228, ClinGen CA400486080, ClinVar RCV000636072, ClinVar RCV002256428, AlphaMissense 0.11, MetaLR 0.13, Uncertain significance, Fanconi anemia complementation group J; Familial cancer of breast; Hereditary ca
- M4K (p.Met4Lys), rs2078973570, ClinGen CA400486083, ClinVar RCV002347134, ClinVar RCV005227630, AlphaMissense 0.07, MetaLR 0.09, Uncertain significance, Fanconi anemia complementation group J; Familial cancer of breast; Hereditary ca
- M4L (p.Met4Leu), rs45512093, ClinGen CA400486084, ClinVar RCV000774961, TOPMed rs45512093, REVEL 0.13, CADD 0.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- M4T (p.Met4Thr), rs2078973570, ClinGen CA400486082, ClinVar RCV001349928, Ensembl rs2078973570, AlphaMissense 0.07, MetaLR 0.09, Uncertain significance, Fanconi anemia complementation group J; Familial cancer of breast
- M4V (p.Met4Val), rs45512093, ClinGen CA10580900, ClinVar RCV000216902, ClinVar RCV000467101, REVEL 0.12, CADD 0.00, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group J
- W5* (p.Trp5Ter), rs2078973424, ClinGen CA400486071, ClinVar RCV001951174, ClinVar RCV003336478, AlphaMissense 0.18, MetaLR 0.12, Pathogenic
- W5C (p.Trp5Cys), rs2078973424, ClinGen CA400486070, ClinVar RCV001319299, ClinVar RCV005532942, AlphaMissense 0.18, MetaLR 0.12, Uncertain significance, Familial cancer of breast; Fanconi anemia complementation group J
- W5G (p.Trp5Gly), rs2078973498, ClinGen CA400486075, ClinVar RCV001215218, Ensembl rs2078973498, REVEL 0.08, CADD 16.10, Uncertain significance, Familial cancer of breast; Fanconi anemia complementation group J
- W5R (p.Trp5Arg), Ensembl rs2078973498, Uncertain significance
- W5S (p.Trp5Ser), Ensembl rs1555618738, Pathogenic
- S6C (p.Ser6Cys), Ensembl rs1603368484, Uncertain significance
- S6F (p.Ser6Phe), rs1603368484, ClinGen CA400486063, ClinVar RCV001013224, ClinVar RCV001071716, AlphaMissense 0.10, MetaLR 0.38, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast; Fanconi anem
- E7* (p.Glu7Ter), TOPMed rs1246321339, gnomAD rs1246321339, Uncertain significance
- E7D (p.Glu7Asp), Ensembl rs2145865880
- E7G (p.Glu7Gly), Ensembl rs2145865897, Uncertain significance
- E7K (p.Glu7Lys), rs1246321339, ClinGen CA400486061, ClinVar RCV001958237, ClinVar RCV005308626, REVEL 0.16, CADD 27.20, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast; Fanconi anem
- E7Q (p.Glu7Gln), rs1246321339, ClinGen CA400486062, ClinVar RCV001014003, ClinVar RCV001860752, REVEL 0.10, CADD 25.70, Uncertain significance, Familial cancer of breast; Fanconi anemia complementation group J; Hereditary ca
- E7V (p.Glu7Val), rs2145865897, ClinGen CA400486057, ClinVar RCV003405062, Ensembl rs2145865897, AlphaMissense 0.25, MetaLR 0.19, Uncertain significance, not specified
- Y8* (p.Tyr8Ter), rs752411477, ClinGen CA400486048, ClinVar RCV001194695, ClinVar RCV003163490, CADD 34.00, Pathogenic
- Y8C (p.Tyr8Cys), rs2145865832, ClinGen CA400486050, ClinVar RCV003802744, AlphaMissense 0.23, MetaLR 0.15, Uncertain significance, Fanconi anemia complementation group J; Familial cancer of breast
- Y8F (p.Tyr8Phe), Ensembl rs2145865832, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 1
- Y8N (p.Tyr8Asn), Ensembl rs2145865850
- T9A (p.Thr9Ala), rs2078973246, ClinGen CA400486047, ClinVar RCV001069461, ClinVar RCV002429737, REVEL 0.30, CADD 25.80, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast; Fanconi anem
- T9I (p.Thr9Ile), Ensembl rs2145865715
- T9R (p.Thr9Arg), Ensembl rs2145865715
- T9S (p.Thr9Ser), Ensembl rs2078973246, Uncertain significance
- I10F (p.Ile10Phe), Ensembl rs945685514, Uncertain significance
- I10L (p.Ile10Leu), rs945685514, ClinGen CA400486041, ClinVar RCV003322372, Ensembl rs945685514, AlphaMissense 0.32, MetaLR 0.47, Uncertain significance, not specified
- I10N (p.Ile10Asn), TOPMed rs786203418, gnomAD rs786203418, Uncertain significance
- I10T (p.Ile10Thr), rs786203418, ClinGen CA196556, ClinVar RCV000166716, ClinVar RCV001052914, REVEL 0.84, CADD 25.80, Uncertain significance
- I10V (p.Ile10Val), rs945685514, ClinGen CA292281860, ClinVar RCV001016908, ClinVar RCV001209674, REVEL 0.35, AlphaMissense 0.32, Uncertain significance, Familial cancer of breast; Fanconi anemia complementation group J; Familial ovar
- G11A (p.Gly11Ala), Ensembl rs2145865526
- G11D (p.Gly11Asp), Ensembl rs2145865526
- G12A (p.Gly12Ala), rs1555618733, ClinGen CA400486026, ClinVar RCV002012927, ClinVar RCV002458966, AlphaMissense 0.89, MetaLR 0.69, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group J
- G12E (p.Gly12Glu), rs1555618733, ClinGen CA400486027, ClinVar RCV000568790, Ensembl rs1555618733, AlphaMissense 0.89, MetaLR 0.69, Uncertain significance, Hereditary cancer-predisposing syndrome
- G12R (p.Gly12Arg), rs2145865460, ClinGen CA400486030, ClinVar RCV002459136, ClinVar RCV003775646, AlphaMissense 0.83, MetaLR 0.65, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group J
- G12V (p.Gly12Val), rs1555618733, ClinGen CA400486025, cosmic curated COSV10636, ClinVar RCV002455192, AlphaMissense 0.89, MetaLR 0.69, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group J
- V13A (p.Val13Ala), rs1555618729, ClinGen CA400486020, ClinVar RCV000506482, ClinVar RCV005306049, REVEL 0.33, CADD 26.20, Uncertain significance, Hereditary cancer-predisposing syndrome; not specified
- V13L (p.Val13Leu), rs1488264110, ClinGen CA400486022, ClinVar RCV003339127, ClinVar RCV003777484, AlphaMissense 0.53, MetaLR 0.32, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group J
- V13M (p.Val13Met), rs1488264110, ClinGen CA400486024, ClinVar RCV001976253, ClinVar RCV002361334, REVEL 0.40, AlphaMissense 0.53, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast; Fanconi anem
- K14* (p.Lys14Ter), rs1555618727, ClinGen CA400486016, ClinVar RCV001021864, ClinVar RCV003316749, AlphaMissense 0.30, MetaLR 0.18, Pathogenic
- K14E (p.Lys14Glu), rs1555618727, ClinGen CA400486017, ClinVar RCV001210217, Ensembl rs1555618727, AlphaMissense 0.30, MetaLR 0.18, Uncertain significance, Familial cancer of breast; Fanconi anemia complementation group J
- K14M (p.Lys14Met), Ensembl rs2145865210
- K14N (p.Lys14Asn), rs2078972704, ClinGen CA400486012, ClinVar RCV001948389, ClinVar RCV003303437, AlphaMissense 0.46, MetaLR 0.18, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast; Fanconi anem
- I15F (p.Ile15Phe), Ensembl rs1567878177, REVEL 0.31, AlphaMissense 0.11, Uncertain significance
- I15L (p.Ile15Leu), Ensembl rs1567878177, Uncertain significance
- I15V (p.Ile15Val), rs1567878177, ClinGen CA400486009, ClinVar RCV000698912, ClinVar RCV005532741, AlphaMissense 0.11, MetaLR 0.15, Uncertain significance, Fanconi anemia complementation group J; Familial cancer of breast; Hereditary ca
- Y16* (p.Tyr16Ter), Ensembl rs1603368466, Benign
- Y16C (p.Tyr16Cys), rs587781387, ClinGen CA163990, ClinVar RCV000129220, Ensembl rs587781387, AlphaMissense 0.06, MetaLR 0.07, Uncertain significance
- Y16H (p.Tyr16His), rs2078972580, ClinGen CA400486002, ClinVar RCV001186814, Ensembl rs2078972580, AlphaMissense 0.04, MetaLR 0.06, Uncertain significance, Hereditary cancer-predisposing syndrome
- Y16N (p.Tyr16Asn), Ensembl rs2078972580, Uncertain significance
- F17C (p.Phe17Cys), Ensembl rs2078972416
- F17I (p.Phe17Ile), Ensembl rs1603368465, Uncertain significance
- F17L (p.Phe17Leu), rs1603368465, ClinGen CA400485995, ClinVar RCV000808470, ClinVar RCV004949955, AlphaMissense 0.97, MetaLR 0.39, Uncertain significance, Familial cancer of breast; Fanconi anemia complementation group J; Hereditary ca
- F17Y (p.Phe17Tyr), Ensembl rs2078972416
- P18A (p.Pro18Ala), rs1555618724, ClinGen CA400485987, ClinVar RCV002344579, ClinVar RCV003776083, REVEL 0.55, AlphaMissense 0.94, Uncertain significance, Fanconi anemia complementation group J; Familial cancer of breast; Hereditary ca
- P18H (p.Pro18His), gnomAD rs1415589484, Uncertain significance
- P18L (p.Pro18Leu), rs1415589484, ClinGen CA400485985, ClinVar RCV002040423, ClinVar RCV004947037, REVEL 0.76, CADD 31.00, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast; Fanconi anem
- P18R (p.Pro18Arg), gnomAD rs1415589484, Uncertain significance, Hereditary cancer-predisposing syndrome
- P18S (p.Pro18Ser), rs1555618724, ClinGen CA400485986, ClinVar RCV000542420, ClinVar RCV000564557, AlphaMissense 0.94, MetaLR 0.53, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group J
- P18T (p.Pro18Thr), Ensembl rs1555618724, Uncertain significance
- Y19* (p.Tyr19Ter), gnomAD rs876659588, CADD 35.00, Benign
- Y19C (p.Tyr19Cys), rs876660880, ClinGen CA10580898, ClinVar RCV000217783, ClinVar RCV000636140, REVEL 0.34, CADD 13.70, Conflicting interpretations, Fanconi anemia complementation group J; Familial cancer of breast; Hereditary ca
- Y19H (p.Tyr19His), rs2145864677, ClinGen CA400485981, ClinVar RCV003382372, AlphaMissense 0.20, MetaLR 0.19, Uncertain significance, Hereditary cancer-predisposing syndrome
- Y19N (p.Tyr19Asn), Ensembl rs2145864677
- Y19S (p.Tyr19Ser), rs876660880, ClinGen CA400485979, ClinVar RCV001524361, TOPMed rs876660880, REVEL 0.34, CADD 21.10, Uncertain significance, Hereditary cancer-predisposing syndrome
- K20* (p.Lys20Ter), rs2545480384, ClinGen CA400485973, ClinVar RCV003234847, Likely pathogenic
- K20E (p.Lys20Glu), rs2545480384, ClinGen CA400485974, ClinVar RCV002355679, ClinVar RCV005215837, REVEL 0.14, CADD 24.80, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group J
- K20N (p.Lys20Asn), Ensembl rs2145864589, REVEL 0.05, CADD 25.00, Likely benign
- A21D (p.Ala21Asp), rs1603368436, ClinGen CA400485964, ClinVar RCV000804020, ClinVar RCV001823167, AlphaMissense 0.50, MetaLR 0.45, Uncertain significance, Familial cancer of breast; Fanconi anemia complementation group J; Hereditary ca
- A21G (p.Ala21Gly), Ensembl rs1603368436, Uncertain significance
- A21P (p.Ala21Pro), Ensembl rs2145864566
- A21V (p.Ala21Val), rs1603368436, ClinGen CA400485962, ClinVar RCV001207184, ClinVar RCV002356887, AlphaMissense 0.50, MetaLR 0.45, Uncertain significance, Familial cancer of breast; Fanconi anemia complementation group J; Hereditary ca
- Y22* (p.Tyr22Ter), rs1406859817, ClinGen CA773832479, ClinVar RCV001526252, TOPMed rs1406859817, CADD 33.00, Uncertain significance
- Y22C (p.Tyr22Cys), rs1567878117, ClinGen CA400485958, ClinVar RCV000772477, Ensembl rs1567878117, AlphaMissense 0.72, MetaLR 0.51, Uncertain significance, Hereditary cancer-predisposing syndrome
- Y22H (p.Tyr22His), TOPMed rs876659008, Uncertain significance
- Y22N (p.Tyr22Asn), rs876659008, ClinGen CA10580896, ClinVar RCV000218322, ClinVar RCV001051421, AlphaMissense 0.85, MetaLR 0.51, Uncertain significance
- Y22S (p.Tyr22Ser), rs1567878117, ClinGen CA400485959, ClinVar RCV002304245, AlphaMissense 0.72, MetaLR 0.51, Uncertain significance, Familial cancer of breast; Fanconi anemia complementation group J
- P23A (p.Pro23Ala), rs1603368425, ClinGen CA400485953, ClinVar RCV002044445, ClinVar RCV002268577, AlphaMissense 0.58, MetaLR 0.48, Uncertain significance, Familial cancer of breast; Fanconi anemia complementation group J; not specified
- P23L (p.Pro23Leu), rs1292425366, ClinGen CA400485949, cosmic curated COSV10586, ClinVar RCV001025781, REVEL 0.62, AlphaMissense 0.73, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group J
- P23R (p.Pro23Arg), rs1292425366, ClinGen CA400485950, ClinVar RCV003804024, TOPMed rs1292425366, AlphaMissense 0.73, MetaLR 0.54, Uncertain significance, Fanconi anemia complementation group J; Familial cancer of breast
- P23S (p.Pro23Ser), rs1603368425, ClinGen CA400485954, cosmic curated COSV10500, ClinVar RCV003297014, REVEL 0.47, AlphaMissense 0.58, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group J
- P23T (p.Pro23Thr), rs1603368425, ClinGen CA400485952, ClinVar RCV001025665, ClinVar RCV001343443, AlphaMissense 0.58, MetaLR 0.48, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group J
- S24* (p.Ser24Ter), Ensembl rs1567878087, Uncertain significance
- S24L (p.Ser24Leu), rs1567878087, ClinGen CA400485943, ClinVar RCV000694240, ClinVar RCV003303141, REVEL 0.21, CADD 29.70, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group J
- S24P (p.Ser24Pro), Ensembl rs2145864172
- S24T (p.Ser24Thr), Ensembl rs2145864172
- Q25* (p.Gln25Ter), rs2078971612, ClinGen CA400485940, NCI-TCGA Cosmic COSV9936, cosmic curated COSV99369, AlphaMissense 0.64, MetaLR 0.80, Pathogenic
- Q25E (p.Gln25Glu), Ensembl rs2078971612, Pathogenic
- Q25H (p.Gln25His), rs1555618712, ClinGen CA400485936, ClinVar RCV002394242, Ensembl rs1555618712, AlphaMissense 0.99, MetaLR 0.80, Uncertain significance, Hereditary cancer-predisposing syndrome
- Q25R (p.Gln25Arg), Ensembl rs2145863985
- L26F (p.Leu26Phe), Ensembl rs2145863923, Uncertain significance
- L26H (p.Leu26His), TOPMed rs1603368414, Uncertain significance
- L26P (p.Leu26Pro), rs1603368414, ClinGen CA400485930, ClinVar RCV000821901, ClinVar RCV003584766, REVEL 0.90, AlphaMissense 0.99, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast; Fanconi anem
- L26R (p.Leu26Arg), rs1603368414, ClinGen CA400485929, ClinVar RCV001344944, TOPMed rs1603368414, AlphaMissense 0.99, MetaLR 0.64, Uncertain significance, Fanconi anemia complementation group J; Familial cancer of breast
- L26V (p.Leu26Val), rs2145863923, ClinGen CA400485932, ClinVar RCV003494218, Ensembl rs2145863923, AlphaMissense 0.21, MetaLR 0.48, Uncertain significance, not specified
- A27D (p.Ala27Asp), Ensembl rs2145863755, Uncertain significance
- A27G (p.Ala27Gly), Ensembl rs2145863755, Uncertain significance
- A27P (p.Ala27Pro), Ensembl rs1555618704, Uncertain significance
- A27S (p.Ala27Ser), rs1555618704, ClinGen CA400485926, ClinVar RCV000566279, Ensembl rs1555618704, AlphaMissense 0.17, MetaLR 0.26, Uncertain significance, Hereditary cancer-predisposing syndrome
- A27T (p.Ala27Thr), Ensembl rs1555618704, Uncertain significance
- A27V (p.Ala27Val), rs2145863755, ClinGen CA400485924, ClinVar RCV003585066, Ensembl rs2145863755, AlphaMissense 0.50, MetaLR 0.38, Uncertain significance, Hereditary cancer-predisposing syndrome
- M28I (p.Met28Ile), Ensembl rs2145863658, cosmic curated COSV99034
- M28K (p.Met28Lys), rs786202674, ClinGen CA193792, ClinVar RCV000165601, ClinVar RCV001064592, REVEL 0.59, CADD 27.90, Uncertain significance
- M28L (p.Met28Leu), rs1330147176, ClinGen CA400485921, ClinVar RCV000561978, ClinVar RCV000636122, REVEL 0.11, CADD 23.90, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Fanconi anemia complement
- M28V (p.Met28Val), rs1330147176, ClinGen CA400485922, ClinVar RCV000570506, ClinVar RCV000801846, REVEL 0.24, CADD 23.50, Uncertain significance, Fanconi anemia complementation group J; Hereditary cancer-predisposing syndrome
- M29D (p.Met29Asp), rs2545479728, ClinGen CA2582342263, ClinVar RCV003334540, Pathogenic
- M29I (p.Met29Ile), rs769585673, ClinGen CA8691014, ClinVar RCV000570164, ClinVar RCV005223006, REVEL 0.28, CADD 29.60, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group J
- M29K (p.Met29Lys), Ensembl rs2145863615
- M29V (p.Met29Val), rs2078971287, ClinGen CA400485913, ClinVar RCV001294659, Ensembl rs2078971287, AlphaMissense 0.81, MetaLR 0.44, Uncertain significance, Familial cancer of breast; Fanconi anemia complementation group J
- N30D (p.Asn30Asp), rs747867580, ClinGen CA8691013, ClinVar RCV002376040, ExAC rs747867580, REVEL 0.49, CADD 26.80, Uncertain significance, Hereditary cancer-predisposing syndrome
- N30H (p.Asn30His), rs747867580, ClinGen CA400485906, ClinVar RCV002785953, ClinVar RCV005356195, REVEL 0.45, CADD 28.20, Uncertain significance, Familial cancer of breast; Fanconi anemia complementation group J
- S31C (p.Ser31Cys), Ensembl rs2078971136, Uncertain significance
- S31F (p.Ser31Phe), rs2078971136, ClinGen CA400485894, ClinVar RCV001192043, ClinVar RCV006557178, AlphaMissense 0.45, MetaLR 0.41, Uncertain significance, Fanconi anemia complementation group J; Familial cancer of breast; Hereditary ca
- S31T (p.Ser31Thr), Ensembl rs2145863530
- I32F (p.Ile32Phe), rs776386693, ClinGen CA8690995, ClinVar RCV001883943, ClinVar RCV002370429, AlphaMissense 0.72, MetaLR 0.64, Uncertain significance, Familial cancer of breast; Fanconi anemia complementation group J; Hereditary ca
- I32V (p.Ile32Val), rs776386693, ClinGen CA400485883, ClinVar RCV000580127, ExAC rs776386693, AlphaMissense 0.72, MetaLR 0.64, Uncertain significance, Hereditary cancer-predisposing syndrome
- L33F (p.Leu33Phe), rs772319724, ClinGen CA8690994, ClinVar RCV000562728, ClinVar RCV001054310, REVEL 0.03, AlphaMissense 0.47, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group J
- L33H (p.Leu33His), Ensembl rs2145853042, Uncertain significance, Hereditary cancer-predisposing syndrome
- L33V (p.Leu33Val), rs772319724, ClinGen CA400485878, ClinVar RCV003815666, ExAC rs772319724, AlphaMissense 0.47, MetaLR 0.13, Uncertain significance, Familial cancer of breast; Fanconi anemia complementation group J
- R34* (p.Arg34Ter), Ensembl rs2145852980, Uncertain significance
- R34G (p.Arg34Gly), rs2145852980, ClinGen CA400485873, ClinVar RCV002041049, ClinVar RCV003464395, REVEL 0.33, CADD 26.20, Uncertain significance, Familial cancer of breast; Fanconi anemia complementation group J
- R34K (p.Arg34Lys), Ensembl rs786201468, Uncertain significance
- R34T (p.Arg34Thr), rs786201468, ClinGen CA188988, ClinVar RCV000163702, Ensembl rs786201468, AlphaMissense 0.11, MetaLR 0.14, Uncertain significance
- G35* (p.Gly35Ter), rs373104267, ClinGen CA400485866, ClinVar RCV000636074, ClinVar RCV001182086, CADD 36.00, Pathogenic
- G35A (p.Gly35Ala), rs876659168, ClinGen CA10580894, ClinVar RCV000217605, ClinVar RCV006555702, AlphaMissense 0.99, MetaLR 0.37, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group J
- G35E (p.Gly35Glu), rs876659168, ClinGen CA400485865, ClinVar RCV001186692, gnomAD rs876659168, REVEL 0.37, AlphaMissense 0.99, Uncertain significance, Hereditary cancer-predisposing syndrome
- G35R (p.Gly35Arg), rs373104267, ClinGen CA400485867, ClinVar RCV001176272, ESP rs373104267, REVEL 0.44, CADD 26.60, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group J
- G35V (p.Gly35Val), rs876659168, ClinGen CA400485864, ClinVar RCV000780049, gnomAD rs876659168, REVEL 0.31, AlphaMissense 0.99, Uncertain significance, not specified
- L36* (p.Leu36Ter), rs1060501767, ClinGen CA400485861, ClinVar RCV003335703, AlphaMissense 0.96, MetaLR 0.41, Pathogenic
- L36C (p.Leu36Cys), rs2545473339, ClinGen CA2582342261, ClinVar RCV003334772, Pathogenic
- L36F (p.Leu36Phe), rs774586397, ClinGen CA8690992, ClinVar RCV000215935, ClinVar RCV000636168, REVEL 0.40, CADD 24.00, Benign
- L36I (p.Leu36Ile), Ensembl rs2145852793
- L36S (p.Leu36Ser), rs1060501767, ClinGen CA16615847, ClinVar RCV000460801, Ensembl rs1060501767, AlphaMissense 0.96, MetaLR 0.41, Uncertain significance, Familial cancer of breast; Fanconi anemia complementation group J
- N37D (p.Asn37Asp), TOPMed rs1256465650, Uncertain significance, Hereditary cancer-predisposing syndrome
- N37I (p.Asn37Ile), cosmic curated COSV52007, gnomAD rs876659105, Uncertain significance
- N37K (p.Asn37Lys), Ensembl rs2145852604, REVEL 0.20, CADD 18.30, Benign
- N37S (p.Asn37Ser), rs876659105, ClinGen CA10580893, ClinVar RCV000222467, ClinVar RCV000764136, AlphaMissense 0.10, MetaLR 0.51, Uncertain significance
- N37Y (p.Asn37Tyr), TOPMed rs1256465650
- S38G (p.Ser38Gly), rs2145852551, ClinGen CA400485849, ClinVar RCV001931971, Ensembl rs2145852551, AlphaMissense 0.06, MetaLR 0.07, Uncertain significance, Familial cancer of breast; Fanconi anemia complementation group J
- S38I (p.Ser38Ile), NCI-TCGA Cosmic COSV5199, cosmic curated COSV51997, Variant assessed as somatic; moderate impact.
- S38N (p.Ser38Asn), rs1555618429, ClinGen CA400485848, NCI-TCGA Cosmic COSV5199, ClinVar RCV000572926, REVEL 0.04, CADD 16.20, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group J
- S38R (p.Ser38Arg), rs2078951392, ClinGen CA400485845, ClinVar RCV001307190, Ensembl rs2078951392, AlphaMissense 0.30, MetaLR 0.09, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group J
- S38T (p.Ser38Thr), Ensembl rs1555618429, Uncertain significance
- K39M (p.Lys39Met), Ensembl rs1555618428, Uncertain significance
- K39N (p.Lys39Asn), rs2145852394, ClinGen CA400485837, ClinVar RCV002257007, Ensembl rs2145852394, REVEL 0.02, CADD 16.30, Uncertain significance, Hereditary cancer-predisposing syndrome
- K39R (p.Lys39Arg), Ensembl rs1555618428, Uncertain significance
- K39T (p.Lys39Thr), rs1555618428, ClinGen CA400485840, ClinVar RCV000569770, Ensembl rs1555618428, AlphaMissense 0.06, MetaLR 0.11, Uncertain significance, Hereditary cancer-predisposing syndrome
- Q40* (p.Gln40Ter), rs2145852357, ClinGen CA400485835, ClinVar RCV002791583, ClinVar RCV003167794, AlphaMissense 0.12, MetaLR 0.24, Pathogenic
- Q40E (p.Gln40Glu), rs2145852357, ClinGen CA400485833, ClinVar RCV002297982, Ensembl rs2145852357, AlphaMissense 0.12, MetaLR 0.24, Uncertain significance, Familial cancer of breast; Fanconi anemia complementation group J
- Q40H (p.Gln40His), TOPMed rs878855136, gnomAD rs878855136, Benign
- Q40L (p.Gln40Leu), Ensembl rs2078951315, Uncertain significance
- Q40P (p.Gln40Pro), rs2078951315, ClinGen CA400485832, ClinVar RCV001320650, Ensembl rs2078951315, REVEL 0.47, CADD 26.50, Uncertain significance, Fanconi anemia complementation group J; Familial cancer of breast
- H41D (p.His41Asp), rs770930270, ClinGen CA400485827, ClinVar RCV001193530, ExAC rs770930270, AlphaMissense 0.70, MetaLR 0.35, Uncertain significance, not specified
- H41L (p.His41Leu), gnomAD rs1253714284, Uncertain significance
- H41R (p.His41Arg), rs1253714284, ClinGen CA400485824, ClinVar RCV001010446, gnomAD rs1253714284, REVEL 0.43, CADD 25.40, Uncertain significance, Hereditary cancer-predisposing syndrome
- H41Y (p.His41Tyr), rs770930270, ClinGen CA8690991, ClinVar RCV000773114, ClinVar RCV001203883, REVEL 0.38, AlphaMissense 0.70, Uncertain significance, Familial cancer of breast; Fanconi anemia complementation group J; Hereditary ca
- C42* (p.Cys42Ter), ExAC rs749323434, Likely benign
- C42F (p.Cys42Phe), rs1555618423, ClinGen CA400485815, ClinVar RCV000704979, ClinVar RCV002424707, AlphaMissense 0.84, MetaLR 0.64, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group J
- C42G (p.Cys42Gly), rs1567877037, ClinGen CA400485820, ClinVar RCV001308934, Ensembl rs1567877037, AlphaMissense 0.99, MetaLR 0.62, Uncertain significance, Familial cancer of breast; Fanconi anemia complementation group J
- C42R (p.Cys42Arg), rs1567877037, ClinGen CA400485819, ClinVar RCV000691506, ClinVar RCV003163154, REVEL 0.80, AlphaMissense 0.99, Uncertain significance, Fanconi anemia complementation group J; Familial cancer of breast; Hereditary ca
- C42S (p.Cys42Ser), Ensembl rs1567877037, Uncertain significance
- C42Y (p.Cys42Tyr), rs1555618423, ClinGen CA400485817, ClinVar RCV000561259, Ensembl rs1555618423, AlphaMissense 0.84, MetaLR 0.64, Uncertain significance, Hereditary cancer-predisposing syndrome
- L43* (p.Leu43Ter), rs2545472842, ClinGen CA400485810, ClinVar RCV002383286, Likely pathogenic
- L43F (p.Leu43Phe), rs2145852056, ClinGen CA400485806, ClinVar RCV001892581, ClinVar RCV004946820, AlphaMissense 0.87, MetaLR 0.49, Uncertain significance, Hereditary cancer-predisposing syndrome
- L44F (p.Leu44Phe), Ensembl rs2145851966, NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L44M (p.Leu44Met), ExAC rs758270108, gnomAD rs758270108, Benign
- E45* (p.Glu45Ter), rs587781292, ClinGen CA163617, ClinVar RCV000128992, ClinVar RCV000196974, AlphaMissense 0.99, MetaLR 0.44, Pathogenic
- E45D (p.Glu45Asp), Ensembl rs2145851863
- E45G (p.Glu45Gly), rs2078950725, ClinGen CA400485796, ClinVar RCV001300803, gnomAD rs2078950725, AlphaMissense 0.98, MetaLR 0.42, Uncertain significance, Familial cancer of breast; Fanconi anemia complementation group J
- E45K (p.Glu45Lys), rs587781292, ClinGen CA8690988, ClinVar RCV000222594, ClinVar RCV000582447, REVEL 0.48, AlphaMissense 0.99, Uncertain significance, Fanconi anemia complementation group J; Familial cancer of breast; Hereditary ca
- E45Q (p.Glu45Gln), rs587781292, ClinGen CA400485798, ClinVar RCV001248723, ExAC rs587781292, AlphaMissense 0.99, MetaLR 0.44, Uncertain significance, Familial cancer of breast; Fanconi anemia complementation group J
Public BRIP1 analysis runs
- BRIP1 analysis run — BRIP1 (5,854 variants) — completed 2026-08-18