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.2162+4G>A

Curation History

CA011799

42884 (ClinVar)

Gene: MYH7

Condition: cardiomyopathy

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 90ddeb4d-091c-4378-ad61-ca1d9551ce4e

Approved on: 2016-12-15

Published on: 2018-11-16

HGVS expressions

NM_000257.3:c.2162+4G>A

NM_000257.3(MYH7):c.2162+4G>A

NC_000014.9:g.23425960C>T

CM000676.2:g.23425960C>T

NC_000014.8:g.23895169C>T

CM000676.1:g.23895169C>T

NC_000014.7:g.22965009C>T

NG_007884.1:g.14702G>A

NM_000257.4:c.2162+4G>A

ENST00000355349.3:c.2162+4G>A

Benign

BP4 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.2162+4G>A variant in the MYH7 gene is 0.75% (93/10406) 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). Additionally, computational prediction tools and conservation analysis suggest that this variant may not impact the protein (BP4).

BP4

Tools suggest no impact

BA1

93/10406 African chromosomes in ExAC

Curation History

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