Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Variant: NM_000257.3(MYH7):c.4472C>G (p.Ser1491Cys)

Curation History

CA015008

43020 (ClinVar)

Gene: MYH7

Condition: cardiomyopathy

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: ccf7c102-ea2b-405d-80ab-65ce87901806

Approved on: 2016-12-15

Published on: 2018-11-16

HGVS expressions

NM_000257.3:c.4472C>G

NM_000257.3(MYH7):c.4472C>G (p.Ser1491Cys)

NC_000014.9:g.23417200G>C

CM000676.2:g.23417200G>C

NC_000014.8:g.23886409G>C

CM000676.1:g.23886409G>C

NC_000014.7:g.22956249G>C

NG_007884.1:g.23462C>G

NR_126491.1:n.652-12G>C

NM_000257.4:c.4472C>G

ENST00000355349.3:c.4472C>G

Benign

BA1

Evidence Links 0

Expert Panel

Cardiomyopathy VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Cardiomyopathy VCEP

The filtering allele frequency of the c.4472C>G (p.Ser1491Cys) variant in the MYH7 gene is 0.98% (698/66740) of European chromosomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Inherited Cardiomyopathy Expert Panel (BA1; PMID:29300372).

BA1

The filtering allele frequency of the c.4472C>G (p.Ser1491Cys) variant in the MYH7 gene is 0.98% (698/66740) of European chromosomes by the Exome Aggregation Consortium

Curation History

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