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NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) AND MYH7-related condition

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 13, 2023
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:
RCV003390725.4

Allele description

NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)

Genes:
LOC126861898:BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808 [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.2389G>A (p.Ala797Thr)
HGVS:
  • NC_000014.9:g.23425316C>T
  • NG_007884.1:g.15346G>A
  • NM_000257.4:c.2389G>AMANE SELECT
  • NP_000248.2:p.Ala797Thr
  • LRG_384t1:c.2389G>A
  • LRG_384:g.15346G>A
  • NC_000014.8:g.23894525C>T
  • NM_000257.2:c.2389G>A
  • NM_000257.3:c.2389G>A
  • P12883:p.Ala797Thr
  • c.2389G>A
Protein change:
A797T
Links:
UniProtKB: P12883#VAR_004591; dbSNP: rs3218716
NCBI 1000 Genomes Browser:
rs3218716
Molecular consequence:
  • NM_000257.4:c.2389G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
MYH7-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004121096PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jun 13, 2023) 		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, SCV004121096.1

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

Description

The MYH7 c.2389G>A variant is predicted to result in the amino acid substitution p.Ala797Thr. This variant has been reported in several individuals with autosomal dominant hypertrophic cardiomyopathy (see for example, Bos et al. 2014. PubMed ID: 24793961, Supplemental Table 1; Walsh et al. 2017. PubMed ID: 27532257, Table S1A). It occurs in a region that is enriched for disease-associated missense variants (Human Gene Mutation Database). This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/14-23894525-C-T), and it is classified as likely pathogenic and pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/42901/). We interpret this variant to be pathogenic.

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

Last Updated: May 7, 2024