NM_000257.4(MYH7):c.3116A>G (p.Glu1039Gly) AND Hypertrophic cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 5, 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:
RCV000540550.8

Allele description [Variation Report for NM_000257.4(MYH7):c.3116A>G (p.Glu1039Gly)]

NM_000257.4(MYH7):c.3116A>G (p.Glu1039Gly)

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.3116A>G (p.Glu1039Gly)
HGVS:
  • NC_000014.9:g.23422309T>C
  • NG_007884.1:g.18353A>G
  • NM_000257.4:c.3116A>GMANE SELECT
  • NP_000248.2:p.Glu1039Gly
  • LRG_384t1:c.3116A>G
  • LRG_384:g.18353A>G
  • NC_000014.8:g.23891518T>C
  • NM_000257.2:c.3116A>G
  • NM_000257.3:c.3116A>G
Protein change:
E1039G
Links:
dbSNP: rs199573700
NCBI 1000 Genomes Browser:
rs199573700
Molecular consequence:
  • NM_000257.4:c.3116A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypertrophic cardiomyopathy
Synonyms:
HYPERTROPHIC MYOCARDIOPATHY
Identifiers:
MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000623688Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Dec 5, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy.

Lipari M, Wypasek E, Karpiński M, Tomkiewicz-Pajak L, Laino L, Binni F, Giannarelli D, Rubiś P, Petkow-Dimitrow P, Undas A, Grammatico P, Bottillo I.

Pol Arch Intern Med. 2020 Feb 27;130(2):89-99. doi: 10.20452/pamw.15130. Epub 2020 Jan 9.

PubMed [citation]
PMID:
31919335

Genetic Variants Associated With Sudden Cardiac Death in Victims With Single Vessel Coronary Artery Disease and Left Ventricular Hypertrophy With or Without Fibrosis.

Vähätalo JH, Holmström LTA, Pylkäs K, Skarp S, Porvari K, Pakanen L, Kaikkonen KS, Perkiömäki JS, Kerkelä R, Huikuri HV, Myerburg RJ, Junttila MJ.

Front Cardiovasc Med. 2021;8:755062. doi: 10.3389/fcvm.2021.755062.

PubMed [citation]
PMID:
35087879
PMCID:
PMC8788946
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000623688.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1039 of the MYH7 protein (p.Glu1039Gly). This variant is present in population databases (rs199573700, gnomAD 0.07%). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy, MYH7-related conditions (PMID: 31919335, 35087879, 35626289). ClinVar contains an entry for this variant (Variation ID: 426200). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MYH7 protein function with a positive predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 29, 2024