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NM_000257.4(MYH7):c.3173A>G (p.Asp1058Gly) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 18, 2021
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:
RCV002322665.2

Allele description [Variation Report for NM_000257.4(MYH7):c.3173A>G (p.Asp1058Gly)]

NM_000257.4(MYH7):c.3173A>G (p.Asp1058Gly)

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.3173A>G (p.Asp1058Gly)
HGVS:
  • NC_000014.9:g.23422252T>C
  • NG_007884.1:g.18410A>G
  • NM_000257.4:c.3173A>GMANE SELECT
  • NM_001407004.1:c.3173A>G
  • NP_000248.2:p.Asp1058Gly
  • NP_000248.2:p.Asp1058Gly
  • NP_001393933.1:p.Asp1058Gly
  • LRG_384t1:c.3173A>G
  • LRG_384:g.18410A>G
  • LRG_384p1:p.Asp1058Gly
  • NC_000014.8:g.23891461T>C
  • NM_000257.2:c.3173A>G
Protein change:
D1058G
Molecular consequence:
  • NM_000257.4:c.3173A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407004.1:c.3173A>G - 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
SCV002609727Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 18, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002609727.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.D1058G variant (also known as c.3173A>G), located in coding exon 23 of the MYH7 gene, results from an A to G substitution at nucleotide position 3173. The aspartic acid at codon 1058 is replaced by glycine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. 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: May 1, 2024