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NM_000257.4(MYH7):c.11C>T (p.Ser4Leu) AND Hypertrophic cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 27, 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:
RCV000548210.5

Allele description [Variation Report for NM_000257.4(MYH7):c.11C>T (p.Ser4Leu)]

NM_000257.4(MYH7):c.11C>T (p.Ser4Leu)

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.11C>T (p.Ser4Leu)
HGVS:
  • NC_000014.9:g.23433722G>A
  • NG_007884.1:g.6940C>T
  • NM_000257.4:c.11C>TMANE SELECT
  • NP_000248.2:p.Ser4Leu
  • LRG_384t1:c.11C>T
  • LRG_384:g.6940C>T
  • NC_000014.8:g.23902931G>A
  • NM_000257.2:c.11C>T
  • NM_000257.3:c.11C>T
Protein change:
S4L
Links:
dbSNP: rs758659692
NCBI 1000 Genomes Browser:
rs758659692
Molecular consequence:
  • NM_000257.4:c.11C>T - 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
SCV000623637Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Dec 27, 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

[Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy].

García-Castro M, Coto E, Reguero JR, Berrazueta JR, Alvarez V, Alonso B, Sainz R, Martín M, Morís C.

Rev Esp Cardiol. 2009 Jan;62(1):48-56. Spanish.

PubMed [citation]
PMID:
19150014

Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy.

Coto E, Reguero JR, Palacín M, Gómez J, Alonso B, Iglesias S, Martín M, Tavira B, Díaz-Molina B, Morales C, Morís C, Rodríguez-Lambert JL, Corao AI, Díaz M, Alvarez V.

J Mol Diagn. 2012 Sep;14(5):518-24. doi: 10.1016/j.jmoldx.2012.04.001. Epub 2012 Jul 2.

PubMed [citation]
PMID:
22765922
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV000623637.5

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

Description

This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 4 of the MYH7 protein (p.Ser4Leu). This variant is present in population databases (rs758659692, gnomAD 0.009%). This missense change has been observed in individuals with hypertrophic cardiomyopathy (PMID: 19150014, 22765922, 25342278). ClinVar contains an entry for this variant (Variation ID: 380650). 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 not expected to disrupt MYH7 protein function with a negative 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: May 7, 2024