BAG3 (O95817) variants and mutations
BAG3 (also known as O95817) is a human protein-coding gene encoding a BAG family molecular chaperone regulator 3 protein. It coordinates chaperone-assisted protein quality control and autophagy, particularly in mechanically stressed cardiac and skeletal muscle. Pathogenic variants can impair sarcomere maintenance and cause dilated cardiomyopathy or myofibrillar myopathy. This analysis covers 1,223 BAG3 variants and mutations. Of these, 80% have computational variant effect predictions. Disease context includes dilated cardiomyopathy 1HH, myofibrillar myopathy 6, and dilated cardiomyopathy. Example BAG3 variants include M1?, M1L, and M1R.
Variant analysis overview
- Gene: BAG3
- Protein: O95817
- UniProt accession: O95817
- Organism: Homo sapiens
- Variants analyzed: 1223
- Variant scope: all variants
- Completed: 2026-08-10
Variant and mutation evidence
- Variant composition: 998 unspecified-consequence records; 119 missense variants; 91 synonymous variants; 6 frameshift variants; 1 splice-region variants; 2 in-frame deletions; 1 in-frame insertions; 5 substitution
- Prediction scores: 979 variants have prediction scores (80% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: dilated cardiomyopathy 1HH, myofibrillar myopathy 6, dilated cardiomyopathy, familial isolated dilated cardiomyopathy, cardiomyopathy, heart failure, hypertrophic cardiomyopathy, Abnormality of the cardiovascular system, familial dilated cardiomyopathy, atrioventricular block, myofibrillar myopathy, systolic heart failure.
Protein structure and variant hotspots
- Protein features: 3 domains; 17 post-translational modification sites.
- Structural context: 319 variants have structural context.
- PTM context: 31 variants overlap post-translational modification sites.
- Experimental data: 49 protein positions have experimental scores. Source: BAG3 WW domain domainome 1.0.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable BAG3 variants
Examples include M1?, M1L, M1R, S2N, S2G, S2I, S2S, A3S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA Cosmic COSV6484, Variant assessed as somatic; high impact.
- M1L (p.Met1Leu), rs1589619813, ClinGen CA378293960, ClinVar RCV002672175, Uncertain significance, Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
- M1R (p.Met1Arg), rs1846841605, ClinGen CA378293965, ClinVar RCV001209747, ClinVar RCV003393887, MetaLR 0.48, MetaSVM 0.07, Uncertain significance, Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH; not provided
- S2N (p.Ser2Asn), rs1396002893, ClinGen CA378293972, ClinVar RCV001889635, ClinVar RCV003382689, REVEL 0.33, CADD 23.40, Uncertain significance, Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6; Cardiovascular phenotype
- S2G (p.Ser2Gly), gnomAD 10-119651679-A-G, REVEL 0.35, CADD 26.30
- S2I (p.Ser2Ile), gnomAD 10-119651680-G-T, REVEL 0.42, CADD 26.20
- S2S (p.Ser2Ser), rs1589619820, gnomAD 10-119651681-C-T, CADD 12.50
- A3S (p.Ala3Ser), rs956429406, ClinGen CA378293977, ClinVar RCV001104468, ClinVar RCV001107228, REVEL 0.30, CADD 25.80, Uncertain significance, Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
- A3T (p.Ala3Thr), rs956429406, ClinGen CA214208015, NCI-TCGA Cosmic COSV6484, ClinVar RCV003051017, REVEL 0.33, CADD 26.80, Uncertain significance, Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
- A3V (p.Ala3Val), gnomAD 10-119651683-C-T, REVEL 0.27, CADD 23.60
- A3A (p.Ala3Ala), gnomAD 10-119651684-C-T, CADD 7.95
- A4V (p.Ala4Val), NCI-TCGA Cosmic COSV6484, Variant assessed as somatic; moderate impact.
- A4T (p.Ala4Thr), gnomAD 10-119651685-G-A, REVEL 0.21, CADD 25.80
- A4S (p.Ala4Ser), gnomAD 10-119651685-G-T, REVEL 0.20, CADD 25.00
- A4D (p.Ala4Asp), gnomAD 10-119651686-C-A, REVEL 0.24, CADD 24.20
- A4A (p.Ala4Ala), gnomAD 10-119651687-C-A, CADD 13.00
- T5A (p.Thr5Ala), rs777752849, ClinGen CA5716202, ClinVar RCV000414454, ClinVar RCV001047745, REVEL 0.14, CADD 20.70, Conflicting interpretations, Cardiovascular phenotype; not specified; Dilated cardiomyopathy 1HH
- T5I (p.Thr5Ile), rs2493979455, ClinGen CA378293992, ClinVar RCV003311178, Uncertain significance, Cardiovascular phenotype
- T5T (p.Thr5Thr), rs1371817400, gnomAD 10-119651690-C-T, CADD 12.70
- H6Q (p.His6Gln), rs745806982, ClinGen CA5716203, ClinVar RCV003783603, ClinVar RCV005631237, REVEL 0.09, CADD 15.10, Uncertain significance, Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH; not provided
- H6H (p.His6His), rs745806982, gnomAD 10-119651693-C-T, CADD 10.00
- S7* (p.Ser7Ter), rs1473083093, ClinGen CA378294003, ClinVar RCV000760907, TOPMed rs1473083093, CADD 39.00, Likely pathogenic
- S7L (p.Ser7Leu), rs1473083093, ClinGen CA378294005, ClinVar RCV003007704, REVEL 0.29, CADD 26.40, Uncertain significance, Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6
- S7P (p.Ser7Pro), rs1308142179, ClinGen CA378294002, ClinVar RCV002417101, ClinVar RCV005215904, REVEL 0.17, CADD 23.30, Uncertain significance, Cardiovascular phenotype; Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
- S7W (p.Ser7Trp), gnomAD 10-119651695-C-G, REVEL 0.39, CADD 26.90
- S7S (p.Ser7Ser), rs1846841906, gnomAD 10-119651696-G-T, CADD 11.70
- P8S (p.Pro8Ser), rs2134050454, ClinGen CA378294008, ClinVar RCV001922342, Ensembl rs2134050454, AlphaMissense 0.21, MetaLR 0.24, Uncertain significance, Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6
- P8T (p.Pro8Thr), gnomAD 10-119651697-C-A, REVEL 0.17, CADD 22.80
- P8H (p.Pro8His), gnomAD 10-119651698-C-A, REVEL 0.30, CADD 24.70
- P8P (p.Pro8Pro), gnomAD 10-119651699-C-A, CADD 7.24
- M9I (p.Met9Ile), rs2134050458, ClinGen CA378294019, ClinVar RCV003812608, Ensembl rs2134050458, AlphaMissense 0.16, MetaLR 0.27, Uncertain significance, Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
- M9V (p.Met9Val), rs137965903, ClinGen CA295667, ClinVar RCV000154683, ClinVar RCV000226527, REVEL 0.09, CADD 0.49, Benign/Likely benign, Cardiovascular phenotype; Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6
- M10I (p.Met10Ile), rs1275338906, ClinGen CA378294025, ClinVar RCV001239979, ClinVar RCV004720299, REVEL 0.06, CADD 18.30, Uncertain significance, Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
- M10R (p.Met10Arg), rs2493979514, ClinGen CA2580082413, ClinVar RCV002438065, ClinVar RCV006559429, Pathogenic
- M10V (p.Met10Val), rs779929078, ClinGen CA5716204, ClinVar RCV001930301, ClinVar RCV004603068, REVEL 0.09, CADD 13.90, Conflicting interpretations, Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6; Cardiovascular phenotype
- M10L (p.Met10Leu), gnomAD 10-119651703-A-T, REVEL 0.07, CADD 18.90
- Q11* (p.Gln11Ter), NCI-TCGA TCGA novel, CADD 39.00, Variant assessed as somatic; high impact.
- Q11K (p.Gln11Lys), rs1468932645, ClinGen CA378294028, ClinVar RCV003780560, TOPMed rs1468932645, REVEL 0.13, CADD 23.20, Uncertain significance, Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
- Q11L (p.Gln11Leu), rs2134050474, ClinGen CA378294032, ClinVar RCV001921617, Ensembl rs2134050474, AlphaMissense 0.17, MetaLR 0.28, Uncertain significance, Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
- Q11R (p.Gln11Arg), gnomAD 10-119651707-A-G, REVEL 0.08, CADD 22.00
- Q11H (p.Gln11His), gnomAD 10-119651708-G-T, REVEL 0.25, CADD 25.10
- V12A (p.Val12Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- V12M (p.Val12Met), rs367917821, ClinGen CA5716205, ClinVar RCV001221205, ClinVar RCV003145412, REVEL 0.09, CADD 14.60, Conflicting interpretations, not provided; Cardiovascular phenotype; Myofibrillar myopathy 6
- V12E (p.Val12Glu), gnomAD 10-119651710-T-A, REVEL 0.15, CADD 23.10
- V12V (p.Val12Val), rs1232169723, gnomAD 10-119651711-G-A, CADD 13.70
- A13P (p.Ala13Pro), rs1479607977, ClinGen CA378294042, ClinVar RCV003784724, gnomAD rs1479607977, REVEL 0.25, CADD 27.60, Uncertain significance, Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
- A13R (p.Ala13Arg), rs2493979552, ClinGen CA2740093557, ClinVar RCV003807213, Pathogenic
- A13V (p.Ala13Val), rs2493979569, ClinGen CA378294044, ClinVar RCV003795692, REVEL 0.27, CADD 25.60, Uncertain significance, Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6
- A13T (p.Ala13Thr), gnomAD 10-119651712-G-A, REVEL 0.18, CADD 26.80
- A13S (p.Ala13Ser), gnomAD 10-119651712-G-T, REVEL 0.15, CADD 22.90
- A13E (p.Ala13Glu), gnomAD 10-119651713-C-A, REVEL 0.15, CADD 22.40
- A13A (p.Ala13Ala), gnomAD 10-119651714-G-T, CADD 14.40
- S14F (p.Ser14Phe), rs2134050488, ClinGen CA378294052, ClinVar RCV001888755, ClinVar RCV002331401, REVEL 0.22, CADD 26.50, Uncertain significance, Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6; Cardiovascular phenotype
- S14T (p.Ser14Thr), gnomAD 10-119651715-T-A, REVEL 0.12, CADD 20.40
- S14P (p.Ser14Pro), gnomAD 10-119651715-T-C, REVEL 0.27, CADD 26.70
- S14S (p.Ser14Ser), gnomAD 10-119651717-C-G, CADD 13.60
- G15D (p.Gly15Asp), NCI-TCGA Cosmic COSV6484, REVEL 0.23, CADD 26.40, Variant assessed as somatic; moderate impact.
- G15S (p.Gly15Ser), ExAC rs768378511, gnomAD rs768378511, REVEL 0.12, CADD 22.80
- G15R (p.Gly15Arg), gnomAD 10-119651718-G-C, REVEL 0.25, CADD 27.60
- G15G (p.Gly15Gly), gnomAD 10-119651720-C-A, CADD 13.80
- N16D (p.Asn16Asp), rs1474784659, ClinGen CA378294059, ClinVar RCV000794067, ClinVar RCV003279067, REVEL 0.13, CADD 23.70, Uncertain significance, Cardiovascular phenotype; Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
- N16S (p.Asn16Ser), gnomAD 10-119651722-A-G, REVEL 0.09, CADD 18.70
- N16N (p.Asn16Asn), rs1846842480, gnomAD 10-119651723-C-T, CADD 12.60
- G17A (p.Gly17Ala), rs1846842565, ClinGen CA378294069, ClinVar RCV001897944, gnomAD rs1846842565, REVEL 0.14, CADD 22.30, Uncertain significance, Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6
- G17R (p.Gly17Arg), rs727502895, ClinGen CA175276, ClinVar RCV000150172, ClinVar RCV001052418, REVEL 0.21, CADD 23.70, Conflicting interpretations, Cardiovascular phenotype; not specified; Dilated cardiomyopathy 1HH
- G17S (p.Gly17Ser), gnomAD 10-119651724-G-A, REVEL 0.15, CADD 23.30
- G17D (p.Gly17Asp), gnomAD 10-119651725-G-A, REVEL 0.14, CADD 23.70
- D18E (p.Asp18Glu), Ensembl rs866659159, REVEL 0.10, CADD 18.90, Likely benign
- D18G (p.Asp18Gly), gnomAD rs1419611154, REVEL 0.21, CADD 26.40
- D18N (p.Asp18Asn), rs2134050513, ClinGen CA378294071, ClinVar RCV003143735, ClinVar RCV006561078, REVEL 0.17, CADD 22.50, Uncertain significance, Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH; not provided
- D18Y (p.Asp18Tyr), gnomAD 10-119651727-G-T, REVEL 0.26, CADD 25.40
- D18D (p.Asp18Asp), rs866659159, gnomAD 10-119651729-C-T, CADD 12.30
- R19C (p.Arg19Cys), rs727502896, ClinGen CA088635, ClinVar RCV000208446, ClinVar RCV000648827, REVEL 0.32, AlphaMissense 0.36, Uncertain significance, Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6; Primary dilated cardiomyopa
- R19S (p.Arg19Ser), rs727502896, ClinGen CA175279, ClinVar RCV000150173, ClinVar RCV005222770, AlphaMissense 0.36, MetaLR 0.34, Uncertain significance, not specified; Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6
- R19G (p.Arg19Gly), gnomAD 10-119651730-C-G, REVEL 0.18, CADD 24.00
- R19H (p.Arg19His), gnomAD 10-119651731-G-A, REVEL 0.25, CADD 25.00
- R19L (p.Arg19Leu), gnomAD 10-119651731-G-T, REVEL 0.20, CADD 24.60
- R19R (p.Arg19Arg), rs1846842793, gnomAD 10-119651732-C-T, CADD 14.20
- D20N (p.Asp20Asn), rs1846842832, ClinGen CA378294082, ClinVar RCV001214159, TOPMed rs1846842832, REVEL 0.29, CADD 25.00, Uncertain significance, Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
- D20Y (p.Asp20Tyr), gnomAD 10-119651733-G-T, REVEL 0.44, CADD 29.30
- D20G (p.Asp20Gly), gnomAD 10-119651734-A-G, REVEL 0.22, CADD 24.40
- D20D (p.Asp20Asp), gnomAD 10-119651735-C-T, CADD 13.10
- P21A (p.Pro21Ala), rs1327618290, ClinGen CA378294091, ClinVar RCV002643890, gnomAD rs1327618290, REVEL 0.47, CADD 24.90, Uncertain significance, Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6
- P21L (p.Pro21Leu), Ensembl rs1589619881, REVEL 0.65, AlphaMissense 0.34, Uncertain significance, Cardiovascular phenotype
- P21R (p.Pro21Arg), rs1589619881, ClinGen CA378294094, ClinVar RCV001959842, Ensembl rs1589619881, AlphaMissense 0.34, MetaLR 0.61, Uncertain significance, Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
- P21T (p.Pro21Thr), gnomAD 10-119651736-C-A, REVEL 0.56, CADD 23.90
- P21H (p.Pro21His), gnomAD 10-119651737-C-A, REVEL 0.64, CADD 26.40
- P21P (p.Pro21Pro), gnomAD 10-119651738-T-C, CADD 11.90
- L22C (p.Leu22Cys), gnomAD 10-119651737-CT-C, CADD 22.60
- L22L (p.Leu22Leu), gnomAD 10-119651739-T-C, CADD 12.90
- L22S (p.Leu22Ser), gnomAD 10-119651740-T-C, REVEL 0.85, CADD 29.10
- L22F (p.Leu22Phe), gnomAD 10-119651741-G-T, REVEL 0.68, CADD 24.40
- P23L (p.Pro23Leu), rs1846843077, ClinGen CA378294107, ClinVar RCV001295494, Ensembl rs1846843077, REVEL 0.88, CADD 27.10, Uncertain significance, Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
- P23S (p.Pro23Ser), rs747846089, ClinGen CA5716208, ClinVar RCV000319672, ClinVar RCV000524859, REVEL 0.85, CADD 26.20, Conflicting interpretations, Cardiovascular phenotype; Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6
- P23T (p.Pro23Thr), gnomAD 10-119651742-C-A, REVEL 0.84, CADD 25.80
- P23H (p.Pro23His), gnomAD 10-119651743-C-A, REVEL 0.88, CADD 26.50
- P23P (p.Pro23Pro), gnomAD 10-119651744-C-A, CADD 10.40
- P24R (p.Pro24Arg), rs771609568, ClinGen CA5716209, ClinVar RCV002033760, ExAC rs771609568, REVEL 0.57, CADD 25.40, Uncertain significance, Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH; not specified
- P24S (p.Pro24Ser), rs2134050540, ClinGen CA378294109, ClinVar RCV001369272, Ensembl rs2134050540, REVEL 0.45, CADD 25.30, Uncertain significance, Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
- P24P (p.Pro24Pro), rs964684316, gnomAD 10-119651747-C-A, CADD 11.20
- G25E (p.Gly25Glu), rs142391650, ClinGen CA378294116, NCI-TCGA Cosmic COSV6484, ClinVar RCV003278447, REVEL 0.86, CADD 28.90, Uncertain significance, Cardiovascular phenotype
- G25V (p.Gly25Val), ESP rs142391650, TOPMed rs142391650, gnomAD rs142391650, Conflicting interpretations, Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH; not provided
- G25D (p.Gly25Asp), rs727502897, gnomAD 10-119651741-GC-G, CADD 29.50
- G25R (p.Gly25Arg), rs727502897, gnomAD 10-119651741-G-GC, CADD 31.00
- G25G (p.Gly25Gly), gnomAD 10-119651750-A-G, CADD 14.40
- W26* (p.Trp26Ter), rs1554875409, ClinGen CA378294121, ClinVar RCV000615326, ClinVar RCV001008646, CADD 41.00, Pathogenic
- W26G (p.Trp26Gly), rs1846843335, ClinGen CA378294120, ClinVar RCV002051395, TOPMed rs1846843335, AlphaMissense 0.99, MetaLR 0.99, Uncertain significance, Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6
- W26R (p.Trp26Arg), TOPMed rs1846843335, gnomAD rs1846843335, REVEL 0.98, AlphaMissense 0.99, Uncertain significance
- W26L (p.Trp26Leu), gnomAD 10-119651752-G-T, REVEL 0.93, CADD 31.00
- W26C (p.Trp26Cys), gnomAD 10-119651753-G-T, REVEL 0.90, CADD 27.20
- E27D (p.Glu27Asp), gnomAD rs1357331177, REVEL 0.65, CADD 24.30
- E27K (p.Glu27Lys), gnomAD 10-119651754-G-A, REVEL 0.86, CADD 31.00
- E27G (p.Glu27Gly), gnomAD 10-119651755-A-G, REVEL 0.92, CADD 32.00
- E27E (p.Glu27Glu), gnomAD 10-119651756-G-A, CADD 12.10
- I28M (p.Ile28Met), rs2493979773, ClinGen CA378294140, ClinVar RCV003789577, Uncertain significance, Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
- I28L (p.Ile28Leu), gnomAD 10-119651757-A-C, REVEL 0.34, CADD 24.40
- I28V (p.Ile28Val), gnomAD 10-119651757-A-G, REVEL 0.25, CADD 22.20
- K29N (p.Lys29Asn), TOPMed rs1275104991, gnomAD rs1275104991, REVEL 0.65, CADD 27.00
- K29E (p.Lys29Glu), gnomAD 10-119651760-A-G, REVEL 0.75, CADD 31.00
- K29T (p.Lys29Thr), gnomAD 10-119651761-A-C, REVEL 0.76, CADD 30.00
- K29R (p.Lys29Arg), gnomAD 10-119651761-A-G, REVEL 0.57, CADD 29.50
- K29K (p.Lys29Lys), rs1275104991, gnomAD 10-119651762-G-A, CADD 13.90
- I30V (p.Ile30Val), rs766796091, ClinGen CA5716212, ClinVar RCV001055637, ClinVar RCV002374929, REVEL 0.17, CADD 20.60, Uncertain significance, Cardiovascular phenotype; Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6
- I30I (p.Ile30Ile), rs1435069147, gnomAD 10-119651765-C-A, CADD 13.10
- D31H (p.Asp31His), rs2493979791, ClinGen CA378294156, ClinVar RCV003800802, Uncertain significance, Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6
- D31N (p.Asp31Asn), gnomAD 10-119651766-G-A, REVEL 0.76, CADD 32.00
- D31G (p.Asp31Gly), gnomAD 10-119651767-A-G, REVEL 0.96, CADD 31.00
- D31D (p.Asp31Asp), rs548800649, gnomAD 10-119651768-C-T, CADD 13.60
- P32L (p.Pro32Leu), rs759915726, ClinGen CA378294167, ClinVar RCV002780851, ClinVar RCV003146629, REVEL 0.73, CADD 28.60, Uncertain significance, Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH; Cardiovascular phenotype
- P32Q (p.Pro32Gln), ExAC rs759915726, TOPMed rs759915726, gnomAD rs759915726, REVEL 0.59, CADD 27.50, Uncertain significance
- P32R (p.Pro32Arg), rs759915726, ClinGen CA378294166, ClinVar RCV003360746, ClinVar RCV003777492, REVEL 0.63, CADD 27.70, Uncertain significance, Cardiovascular phenotype; Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6
- P32A (p.Pro32Ala), gnomAD 10-119651769-C-G, REVEL 0.62, CADD 25.50
- P32S (p.Pro32Ser), gnomAD 10-119651769-C-T, REVEL 0.56, CADD 26.50
- P32P (p.Pro32Pro), rs372083121, gnomAD 10-119651771-G-T, CADD 14.30
- Q33D (p.Gln33Asp), rs2493979814, ClinGen CA2580082464, ClinVar RCV002816435, Pathogenic
- Q33H (p.Gln33His), rs2134050569, ClinGen CA378294174, ClinVar RCV002022225, Ensembl rs2134050569, REVEL 0.47, CADD 23.80, Uncertain significance, Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6
- Q33K (p.Gln33Lys), gnomAD 10-119651772-C-A, REVEL 0.58, CADD 26.30
- Q33R (p.Gln33Arg), gnomAD 10-119651773-A-G, REVEL 0.47, CADD 28.30
- T34I (p.Thr34Ile), rs1387616851, ClinGen CA378294179, ClinVar RCV001955491, TOPMed rs1387616851, REVEL 0.63, CADD 27.00, Uncertain significance, Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
- T34T (p.Thr34Thr), gnomAD 10-119651777-C-T, CADD 13.70
- G35C (p.Gly35Cys), rs200072558, ClinGen CA378294183, ClinVar RCV001886920, ClinVar RCV004801078, REVEL 0.94, CADD 32.00, Uncertain significance, Cardiovascular phenotype; Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
- G35D (p.Gly35Asp), rs2493979847, ClinGen CA378294184, ClinVar RCV003030622, REVEL 0.94, CADD 29.20, Uncertain significance, Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
- G35S (p.Gly35Ser), rs200072558, ClinGen CA5716217, ClinVar RCV001954378, 1000Genomes rs200072558, REVEL 0.94, CADD 31.00, Uncertain significance, Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
- G35A (p.Gly35Ala), gnomAD 10-119651779-G-C, REVEL 0.90, CADD 28.00
- W36* (p.Trp36Ter), rs1846844070, ClinGen CA378294193, ClinVar RCV001220639, ClinVar RCV003163698, CADD 42.00, Pathogenic
- P37L (p.Pro37Leu), ExAC rs751595824, gnomAD rs751595824, REVEL 0.73, CADD 28.30
- P37S (p.Pro37Ser), rs764177199, ClinGen CA5716218, ClinVar RCV001043205, ClinVar RCV001759749, REVEL 0.63, CADD 26.30, Uncertain significance, not provided; Cardiovascular phenotype; Dilated cardiomyopathy 1HH
- P37A (p.Pro37Ala), gnomAD 10-119651784-C-G, REVEL 0.66, CADD 25.50
- P37T (p.Pro37Thr), gnomAD 10-119651784-C-A, REVEL 0.64, CADD 26.00
- P37P (p.Pro37Pro), rs397516880, gnomAD 10-119651786-C-T, CADD 14.30
- F38L (p.Phe38Leu), ExAC rs727504929, TOPMed rs727504929, gnomAD rs727504929, REVEL 0.66, CADD 25.50, Likely benign
- F38S (p.Phe38Ser), gnomAD 10-119651786-CT-C, CADD 31.00
- F38F (p.Phe38Phe), rs727504929, gnomAD 10-119651789-C-T, CADD 13.50
- F39I (p.Phe39Ile), rs2493979913, ClinGen CA378294207, ClinVar RCV002796922, Uncertain significance, Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6
- F39S (p.Phe39Ser), rs1472915271, ClinGen CA378294211, ClinVar RCV001904080, ClinVar RCV002331360, REVEL 0.90, CADD 32.00, Uncertain significance, Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6; Cardiovascular phenotype
- F39L (p.Phe39Leu), gnomAD 10-119651790-T-C, REVEL 0.89, CADD 31.00
- F39F (p.Phe39Phe), rs2134050608, gnomAD 10-119651792-C-T, CADD 14.60
- V40L (p.Val40Leu), Ensembl rs2134050610, Uncertain significance, Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
- V40M (p.Val40Met), gnomAD 10-119651793-G-A, REVEL 0.77, CADD 29.70
- V40V (p.Val40Val), rs1846844374, gnomAD 10-119651795-G-A, CADD 13.50
- D41G (p.Asp41Gly), rs2134050615, ClinGen CA378294226, ClinVar RCV001920248, Ensembl rs2134050615, REVEL 0.94, CADD 29.20, Uncertain significance, Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6
- D41N (p.Asp41Asn), gnomAD rs1167031491, REVEL 0.49, CADD 32.00
- D41H (p.Asp41His), gnomAD 10-119651796-G-C, REVEL 0.89, CADD 32.00
- D41D (p.Asp41Asp), gnomAD 10-119651798-C-T, CADD 14.00
- D41E (p.Asp41Glu), gnomAD 10-119651798-C-A, REVEL 0.67, CADD 24.50
- H42Q (p.His42Gln), rs2493980004, ClinGen CA378294235, ClinVar RCV002301737, REVEL 0.88, CADD 26.20, Uncertain significance, Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6
- H42R (p.His42Arg), rs1846844504, ClinGen CA378294234, ClinVar RCV001203922, Ensembl rs1846844504, REVEL 0.92, CADD 27.60, Uncertain significance, Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
- H42Y (p.His42Tyr), TOPMed rs1190851372
- H42N (p.His42Asn), gnomAD 10-119651799-C-A, REVEL 0.81, CADD 26.40
- H42H (p.His42His), gnomAD 10-119651801-C-T, CADD 13.90
- N43D (p.Asn43Asp), rs537615906, ClinGen CA5716221, ClinVar RCV004325761, 1000Genomes rs537615906, REVEL 0.68, CADD 27.60, Uncertain significance, Cardiovascular phenotype
- N43S (p.Asn43Ser), ExAC rs201329879, gnomAD rs201329879, REVEL 0.57, CADD 25.90, Likely benign, Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
- N43T (p.Asn43Thr), ExAC rs201329879, gnomAD rs201329879, REVEL 0.67, CADD 27.10
- N43N (p.Asn43Asn), rs778921699, gnomAD 10-119651804-C-T, CADD 13.60
- S44G (p.Ser44Gly), gnomAD rs1375407626, REVEL 0.45, CADD 23.90
- S44N (p.Ser44Asn), gnomAD rs1433180290, REVEL 0.23, CADD 15.00
- S44S (p.Ser44Ser), rs2134050640, gnomAD 10-119651807-C-T, CADD 14.10
- S44R (p.Ser44Arg), gnomAD 10-119651807-C-A, REVEL 0.45, CADD 23.20
- R45C (p.Arg45Cys), rs747820097, ClinGen CA5716225, ClinVar RCV000469809, ClinVar RCV000786109, REVEL 0.87, CADD 32.00, Conflicting interpretations, not provided; Cardiovascular phenotype; Dilated cardiomyopathy 1HH
- R45G (p.Arg45Gly), rs747820097, ClinGen CA378294251, ClinVar RCV003802287, ExAC rs747820097, REVEL 0.72, CADD 28.60, Uncertain significance, Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
Public BAG3 analysis runs
- BAG3 analysis run — BAG3 (1,223 variants) — completed 2026-08-10