rs397515937

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	6.2	Familial Hypertrophic Cardiomyopathy

Make rs397515937(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

47339792

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs397515937
dbSNP (classic)	rs397515937
ClinGen	rs397515937
ebi	rs397515937
HLI	rs397515937
Exac	rs397515937
Gnomad	rs397515937
Varsome	rs397515937
LitVar	rs397515937
Map	rs397515937
PheGenI	rs397515937
Biobank	rs397515937
1000 genomes	rs397515937
hgdp	rs397515937
ensembl	rs397515937
geneview	rs397515937
scholar	rs397515937
google	rs397515937
pharmgkb	rs397515937
gwascentral	rs397515937
openSNP	rs397515937
23andMe	rs397515937
SNPshot	rs397515937
SNPdbe	rs397515937
MSV3d	rs397515937
GWAS Ctlg	rs397515937

Max Magnitude

6.2

rs397515937, also known as c.1928-2A>G, is a mutation in the MYBPC3 gene considered to be an autosomal dominant leading to familial hypertrophic cardiomyopathy, according to multiple sources in ClinVar.

This mutation was the sixth most common pathogenic variant seen in 2,912 unrelated individuals with nonsyndromic hypertrophic cardiomyopathy (HCM) presentations over a 10 year period (2004-2014) at the Partners Healthcare Personalized Medicine clinic in Boston.[PMID 25611685]

ClinVar
Risk	rs397515937(G;G)
Alt	rs397515937(G;G)
Reference	Rs397515937(A;A)
Significance	Pathogenic
Disease	Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy Cardiovascular phenotype
Variation	info
Gene	MYBPC3
CLNDBN	Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy Cardiovascular phenotype
Reversed	1
HGVS	NC_000011.9:g.47361343T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009136.7, RCV000157326.2, RCV000158133.4, RCV000229899.2, RCV000250981.1,