• Atlas of Cardiac Genetic Variation
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•           Inherited Cardiac Conditions          
  • Hypertrophic Cardiomyopathy - HCM
  • Dilated Cardiomyopathy - DCM
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MYH7 : c.397G>A

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.397G>A	p.V133M (Val > Met)	substitution	missense	chr14:23901953 (reverse strand)	0.00000825

Effect in Cardiac Disease

This variant is considered a rare variant, with a population frequency of 0.00000825 (ExAC mean allelic frequency).

HCM	Rare MYH7 Non-Truncating variants are significantly enriched in HCM (details). Missense variants in MYH7 have an overall etiological fraction (EF) of 0.92, but this variant occurs outside of regions enriched for HCM and control variants and has an EF of 0.76. OMGL: Detected in 0 / 3200 HCM patients. LMM:   Detected in 0 / 2912 HCM patients.
DCM	Rare MYH7 Non-Truncating variants are significantly enriched in DCM (details) and have an etiological fraction (EF) of 0.75. OMGL: Detected in 0 / 559 DCM patients. LMM:   Detected in 0 / 756 DCM patients.

The EF is the estimated proportion of rare variants of this class that will be pathogenic in a cardiomyopathy proband, a prior probability based solely on variant frequency data in cases and controls, and should be further refined by additional evidence such as family segregation data, known association with disease, population frequency, protein domain analysis, functional studies and in silico algorithms to assess the significance of a variant.

For more information on the clinical significance of this variant, please see the ClinVar entry.

Detection in Population Databases

Database	European	African	East Asian	South Asian	American	Finnish	Other	Total
ExAC	0.00001501 1 / 66624	0.00000000 0 / 10364	0.00000000 0 / 8654	0.00000000 0 / 16512	0.00000000 0 / 11576	0.00000000 0 / 6614	0.00000000 0 / 908	0.00000825 1 / 121252
ESP	0.00000 0 / 8600	0.00000 0 / 4400						0.00000 0 / 13000
1KG	0.00124 1 / 808	0.00000 0 / 1322	0.00000 0 / 1008	0.00000 0 / 978	0.00000 0 / 694	0.00000 0 / 198		0.00020 1 / 5008

View sub-population details for 1000 Genomes (1KG) data