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

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 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:
RCV004022330.1

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:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005033779Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 13, 2023) 		germlineclinical testing

PubMed (7)
[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

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

Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.

Kapplinger JD, Landstrom AP, Bos JM, Salisbury BA, Callis TE, Ackerman MJ.

J Cardiovasc Transl Res. 2014 Apr;7(3):347-61. doi: 10.1007/s12265-014-9542-z. Epub 2014 Feb 8.

PubMed [citation]
PMID:
24510615
PMCID:
PMC4849132
See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV005033779.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

The p.S4L variant (also known as c.11C>T), located in coding exon 1 of the MYH7 gene, results from a C to T substitution at nucleotide position 11. The serine at codon 4 is replaced by leucine, an amino acid with dissimilar properties. This alteration has been reported in cardiomyopathy cohorts (Coto E et al. J Mol Diagn, 2012 Sep;14:518-24; Gómez J et al. Circ Cardiovasc Genet, 2017 Apr;10:; Ware JS et al. J Am Coll Cardiol, 2018 May;71:2293-2302). This alteration has also been reported in ostensibly healthy individuals (Kapplinger JD et al. J Cardiovasc Transl Res, 2014 Apr;7:347-61; Homburger JR et al. Proc Natl Acad Sci U S A, 2016 Jun;113:6701-6; Park J et al. Hum Mol Genet, 2022 Mar;31:827-837). This amino acid position is poorly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024