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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 30, 2021
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:
RCV000620547.4

Allele description [Variation Report for NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)]

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:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000736226Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Dec 30, 2021) 		germlineclinical testing

PubMed (26)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.

Moolman-Smook JC, De Lange WJ, Bruwer EC, Brink PA, Corfield VA.

Am J Hum Genet. 1999 Nov;65(5):1308-20.

PubMed [citation]
PMID:
10521296
PMCID:
PMC1288283

Expression of HCM causing mutations: lessons learnt from genotype-phenotype studies of the South African founder MYH7 A797T mutation.

Moolman-Smook J, De Lange W, Corfield V, Brink P.

J Med Genet. 2000 Dec;37(12):951-6. No abstract available.

PubMed [citation]
PMID:
11186938
PMCID:
PMC1734508
See all PubMed Citations (26)

Details of each submission

From Ambry Genetics, SCV000736226.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (26)

Description

The p.A797T pathogenic mutation (also known as c.2389G>A), located in coding exon 19 of the MYH7 gene, results from a G to A substitution at nucleotide position 2389. The alanine at codon 797 is replaced by threonine, an amino acid with similar properties. This mutation has been reported in association with hypertrophic cardiomyopathy (HCM) and has shown a founder effect in the South African population (Moolman JC et al. Hum Mutat. 1995;6(2):197-8; Moolman-Smook JC et al. Am J Hum Genet. 1999;65(5):1308-20; Revera M et al. Cardiovasc Res. 2008;77(4):687-94; Brito D et al. Rev Port Cardiol. 2012;31(9):577-87; Kassem HSh et al. J Cardiovasc Transl Res. 2013;6(1):65-80; Lopes LR et al. Heart. 2015;01(4):294-301; Walsh R et al. Genet. Med. 2017;19(2):192-203). This alteration has also segregated with disease across several families (Moolman-Smook JC et al. Am J Hum Genet. 1999;65(5):1308-20; Moolman-Smook J et al. J Med Genet. 2000;37(12):951-6; Laredo R et al. Rev Esp Cardiol. 2006;59(10):1008-18). Based on the supporting evidence, p.A797T is interpreted as a disease-causing mutation.

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

Last Updated: May 26, 2024