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NM_000257.4(MYH7):c.166G>A (p.Gly56Ser) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 27, 2024
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:
RCV004639570.1

Allele description [Variation Report for NM_000257.4(MYH7):c.166G>A (p.Gly56Ser)]

NM_000257.4(MYH7):c.166G>A (p.Gly56Ser)

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.166G>A (p.Gly56Ser)
HGVS:
  • NC_000014.9:g.23433567C>T
  • NG_007884.1:g.7095G>A
  • NM_000257.4:c.166G>AMANE SELECT
  • NP_000248.2:p.Gly56Ser
  • LRG_384t1:c.166G>A
  • LRG_384:g.7095G>A
  • NC_000014.8:g.23902776C>T
  • NM_000257.2:c.166G>A
  • NM_000257.3:c.166G>A
Protein change:
G56S
Links:
dbSNP: rs759500431
NCBI 1000 Genomes Browser:
rs759500431
Molecular consequence:
  • NM_000257.4:c.166G>A - 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
SCV005143048Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 27, 2024) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Unpredicted Aberrant Splicing Products Identified in Postmortem Sudden Cardiac Death Samples.

Coll M, Fernandez-Falgueras A, Iglesias A, Del Olmo B, Nogue-Navarro L, Simon A, Perez Serra A, Puigmule M, Lopez L, Pico F, Corona M, Vallverdu-Prats M, Tiron C, Campuzano O, Castella J, Brugada R, Alcalde M.

Int J Mol Sci. 2022 Oct 20;23(20). doi:pii: 12640. 10.3390/ijms232012640.

PubMed [citation]
PMID:
36293497
PMCID:
PMC9604081

Details of each submission

From Ambry Genetics, SCV005143048.1

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

Description

The p.G56S variant (also known as c.166G>A), located in coding exon 1 of the MYH7 gene, results from a G to A substitution at nucleotide position 166. The glycine at codon 56 is replaced by serine, an amino acid with similar properties. This variant co-occurred with an MYBPC3 variant in an individual with sudden death and hypertrophic cardiomyopathy on autopsy (Coll M et al. Int J Mol Sci, 2022 Oct;23). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 10, 2024