rs77615401

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	4	Familial hypertrophic cardiomyopathy, type 7 (possibly)
(A;G)	3	Familial hypertrophic cardiomyopathy, type 7 (possibly)
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

19

Position

55156239

Gene

TNNI3

is a	snp
is	mentioned by
dbSNP	rs77615401
dbSNP (classic)	rs77615401
ClinGen	rs77615401
ebi	rs77615401
HLI	rs77615401
Exac	rs77615401
Gnomad	rs77615401
Varsome	rs77615401
LitVar	rs77615401
Map	rs77615401
PheGenI	rs77615401
Biobank	rs77615401
1000 genomes	rs77615401
hgdp	rs77615401
ensembl	rs77615401
geneview	rs77615401
scholar	rs77615401
google	rs77615401
pharmgkb	rs77615401
gwascentral	rs77615401
openSNP	rs77615401
23andMe	rs77615401
SNPshot	rs77615401
SNPdbe	rs77615401
MSV3d	rs77615401
GWAS Ctlg	rs77615401

GMAF

0.003214

Max Magnitude

4

rs77615401, also known as c.244C>T, p.Pro82Ser and P82S, represents a mutation in the TNNI3 gene on chromosome 19.

A single copy of the rare rs77615401(T) allele is reported to lead to familial hypertrophic cardiomyopathy, type 7. However, the pathogenicity (and penetrance) of this mutation are not certain. The (T) allele is reportedly found in 3% of healthy African-Americans ([PMID 18175163], and OMIM reports that the authors of that study hypothesize that rs77615401(T) carriers might be at increased risk of late-onset cardiac hypertrophy.

This variant is also cited in [PMID 27532831] as being originally misclassified but now very likely to be benign based on an assessment of diverse populations.

For more information, see OMIM 191044.0003.

This mutation is referred to as i5007729 by 23andMe.

OMIM	191044
Desc
Variant	0003
Related	also

ClinVar
Risk	Rs77615401(A;A)
Alt	Rs77615401(A;A)
Reference	Rs77615401(G;G)
Significance	Other
Disease	Familial hypertrophic cardiomyopathy 7 not specified not provided Hypertrophic cardiomyopathy Cardiomyopathy Cardiovascular phenotype Familial restrictive cardiomyopathy Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome Dilated Cardiomyopathy
Variation	info
Gene	TNNI3
CLNDBN	Familial hypertrophic cardiomyopathy 7 not specified not provided Hypertrophic cardiomyopathy Cardiomyopathy Cardiovascular phenotype Familial restrictive cardiomyopathy Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome Dilated Cardiomyopathy, Recessive
Reversed	0
HGVS	NC_000019.9:g.55667607G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013233.25, RCV000036277.7, RCV000224174.1, RCV000229361.3, RCV000238609.1, RCV000252511.1, RCV000271700.1, RCV000277490.1, RCV000367372.1,