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.2514G>A (p.Pro838=)

Curation History

CA012524

42911 (ClinVar)

Gene: MYH7

Condition: cardiomyopathy

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: d7d969ca-f2e3-4c49-ac31-63f351852a54

Approved on: 2016-12-15

Published on: 2018-11-16

HGVS expressions

NM_000257.3:c.2514G>A

NM_000257.3(MYH7):c.2514G>A (p.Pro838=)

NC_000014.9:g.23424934C>T

CM000676.2:g.23424934C>T

NC_000014.8:g.23894143C>T

CM000676.1:g.23894143C>T

NC_000014.7:g.22963983C>T

NG_007884.1:g.15728G>A

NM_000257.4:c.2514G>A

ENST00000355349.3:c.2514G>A

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.2514G>A (p.Pro838=) variant in the MYH7 gene is 0.18% (27/10404) of African 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.2514G>A (p.Pro838=) variant in the MYH7 gene is 0.18% (27/10404) of African chromosomes by the Exome Aggregation Consortium

Curation History

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