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rs45496496

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;G) 3 Variant of unclear significance
(G;G) 0 common in clinvar


Make rs45496496(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23423939
GeneMYH7
is asnp
is mentioned by
dbSNPrs45496496
dbSNP (classic)rs45496496
ClinGenrs45496496
ebirs45496496
HLIrs45496496
Exacrs45496496
Gnomadrs45496496
Varsomers45496496
LitVarrs45496496
Maprs45496496
PheGenIrs45496496
Biobankrs45496496
1000 genomesrs45496496
hgdprs45496496
ensemblrs45496496
geneviewrs45496496
scholarrs45496496
googlers45496496
pharmgkbrs45496496
gwascentralrs45496496
openSNPrs45496496
23andMers45496496
SNPshotrs45496496
SNPdbers45496496
MSV3drs45496496
GWAS Ctlgrs45496496
Max Magnitude3

rs45496496, also known as c.2890G>C, p.Val964Leu and V964L, represents a very rare in the MYH7 gene on chromosome 14. The minor allele has a frequency of around 1 in 2000 (0.0004 or so).

The majority of clinical testing labs reporting to ClinVar believe the minor allele to be most likely benign, although a minority of labs, as well as algorithmic prediction software, feel it might be a pathogenic mutation potentially associated with autosomally dominant primary dilated cardiomyopathy.


ClinVar
Risk rs45496496(C;C)
Alt rs45496496(C;C)
Reference Rs45496496(G;G)
Significance Other
Disease not specified Primary dilated cardiomyopathy Hypertrophic cardiomyopathy Laing distal myopathy Left ventricular noncompaction cardiomyopathy Dilated Cardiomyopathy Myosin storage myopathy Scapuloperoneal myopathy not provided
Variation info
Gene MYH7
CLNDBN not specified Primary dilated cardiomyopathy Hypertrophic cardiomyopathy Laing distal myopathy Left ventricular noncompaction cardiomyopathy Dilated Cardiomyopathy, Dominant Myosin storage myopathy Scapuloperoneal myopathy not provided
Reversed 1
HGVS NC_000014.8:g.23893148C>G
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000035831.6, RCV000171841.2, RCV000229046.3, RCV000277164.1, RCV000282513.1, RCV000332160.1, RCV000337581.1, RCV000378228.1, RCV000415867.2,