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]

Link to SEPIO compliant JSON-LD document

Variant: NM_000257.3(MYH7):c.3036C>T (p.Ala1012=)

CA013313

42945 (ClinVar)

Gene: MYH7

Condition: cardiomyopathy

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 642005b8-321a-4b2e-9a08-c3cc99d24a7e

HGVS expressions

NM_000257.3:c.3036C>T

NM_000257.3(MYH7):c.3036C>T (p.Ala1012=)

NM_000257.4:c.3036C>T

ENST00000355349.3:c.3036C>T

NC_000014.9:g.23423610G>A

CM000676.2:g.23423610G>A

NC_000014.8:g.23892819G>A

CM000676.1:g.23892819G>A

NC_000014.7:g.22962659G>A

NG_007884.1:g.17052C>T

Benign

BP7 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.3036C>T (p.Ala1012=) silent variant in the MYH7 gene is 0.7% (137/16512) of South Asian 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, BP7; PMID:29300372).

BP7

Silent variant

BA1

Filtering allele freq of 0.7% (137/16512) in South Asian in ExAC

Approved on: 2016-12-15

Published on: 2018-11-16

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