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NM_000257.4(MYH7):c.758G>T (p.Gly253Val) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 13, 2020
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:
RCV000620876.2

Allele description [Variation Report for NM_000257.4(MYH7):c.758G>T (p.Gly253Val)]

NM_000257.4(MYH7):c.758G>T (p.Gly253Val)

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.758G>T (p.Gly253Val)
Other names:
p.G253V:GGG>GTG
HGVS:
  • NC_000014.9:g.23431456C>A
  • NG_007884.1:g.9206G>T
  • NM_000257.4:c.758G>TMANE SELECT
  • NP_000248.2:p.Gly253Val
  • LRG_384t1:c.758G>T
  • LRG_384:g.9206G>T
  • NC_000014.8:g.23900665C>A
  • NM_000257.2:c.758G>T
Protein change:
G253V
Links:
dbSNP: rs730880853
NCBI 1000 Genomes Browser:
rs730880853
Molecular consequence:
  • NM_000257.4:c.758G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000735493Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Nov 13, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000735493.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.G253V variant (also known as c.758G>T), located in coding exon 7 of the MYH7 gene, results from a G to T substitution at nucleotide position 758. The glycine at codon 253 is replaced by valine, an amino acid with dissimilar properties, and is located in the head domain. This amino acid position is well 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
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Feb 20, 2024