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NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) AND MYH7-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 7, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004532357.2

Allele description [Variation Report for NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)]

NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)

Gene:
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)
Other names:
p.E924K:GAG>AAG
HGVS:
  • NC_000014.9:g.23424059C>T
  • NG_007884.1:g.16603G>A
  • NM_000257.4:c.2770G>AMANE SELECT
  • NP_000248.2:p.Glu924Lys
  • LRG_384t1:c.2770G>A
  • LRG_384:g.16603G>A
  • NC_000014.8:g.23893268C>T
  • NM_000257.2:c.2770G>A
  • NM_000257.3:c.2770G>A
  • P12883:p.Glu924Lys
  • c.2770G>A
Protein change:
E924K; GLU924LYS
Links:
UniProtKB: P12883#VAR_004594; OMIM: 160760.0006; dbSNP: rs121913628
NCBI 1000 Genomes Browser:
rs121913628
Molecular consequence:
  • NM_000257.4:c.2770G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
MYH7-related disorder
Synonyms:
MYH7-related condition; MYH7-Related Disorders; MYH7-related disease
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004118787PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Sep 7, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004118787.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The MYH7 c.2770G>A variant is predicted to result in the amino acid substitution p.Glu924Lys. This variant was reported in numerous individuals with hypertrophic cardiomyopathy (Watkins et al. 1992. PubMed ID: 1552912; Dataset S1, Homburger et al. 2016. PubMed ID: 27247418; Jääskeläinen et al. 2019. PubMed ID: 30775854; Table S1, Norrish et al. 2019. PubMed ID: 31006259; Table S1A, Walsh et al. 2017. PubMed ID: 27532257). Functional studies showed that the p.Glu924Lys substitution impacts normal protein function (Gruen and Gautel. 1999. PubMed ID: 10024460; Singh et al. 2021. PubMed ID: 34051236). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024