Variant: NM_000257.3(MYH7):c.4974C>T (p.Asp1658=)

Version: 2.0
JSON-LD PDF

CA015510

43048 (ClinVar)

Gene: MYH7 (HGNC:4625)

Condition: hypertrophic cardiomyopathy

Inheritance Mode: Autosomal dominant inheritance

UUID: 9d15308c-24d6-4612-83db-e16129e10e7f

Approved on: 2025-11-11

Published on: 2026-06-04

HGVS expressions

NM_000257.3:c.4974C>T
NM_000257.3(MYH7):c.4974C>T (p.Asp1658=)
NC_000014.9:g.23415812G>A
CM000676.2:g.23415812G>A
NC_000014.8:g.23885021G>A
CM000676.1:g.23885021G>A
NC_000014.7:g.22954861G>A
NG_007884.1:g.24850C>T
ENST00000355349.4:c.4974C>T
ENST00000355349.3:c.4974C>T
NR_126491.1:n.244G>A
NM_000257.4:c.4974C>T

Benign

• Met criteria codes: BA1

Expert Panel

Cardiomyopathy VCEP

Criteria Specification Information

Criteria Specification: ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MYH7 Version 2.0.0

Evidence submitted by expert panel

Cardiomyopathy VCEP

The filtering allele frequency of the c.4974C>T (p.Asp1658=) variant in the MYH7 gene is 0.36% (53/11558) of Latino 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).

Met criteria codes

• BA1: The filtering allele frequency of the c.4974C>T (p.Asp1658=) variant in the MYH7 gene is 0.36% (53/11558) of Latino chromosomes by the Exome Aggregation Consortium