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NM_000257.4(MYH7):c.2260A>G (p.Asn754Asp) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 24, 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:
RCV003301202.2

Allele description [Variation Report for NM_000257.4(MYH7):c.2260A>G (p.Asn754Asp)]

NM_000257.4(MYH7):c.2260A>G (p.Asn754Asp)

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.2260A>G (p.Asn754Asp)
HGVS:
  • NC_000014.9:g.23425721T>C
  • NG_007884.1:g.14941A>G
  • NM_000257.4:c.2260A>GMANE SELECT
  • NM_001407004.1:c.2260A>G
  • NP_000248.2:p.Asn754Asp
  • NP_000248.2:p.Asn754Asp
  • NP_001393933.1:p.Asn754Asp
  • LRG_384t1:c.2260A>G
  • LRG_384:g.14941A>G
  • LRG_384p1:p.Asn754Asp
  • NC_000014.8:g.23894930T>C
  • NM_000257.2:c.2260A>G
Protein change:
N754D
Molecular consequence:
  • NM_000257.4:c.2260A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407004.1:c.2260A>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
SCV004001169Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 24, 2023) 		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, SCV004001169.2

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

Description

The p.N754D variant (also known as c.2260A>G), located in coding exon 18 of the MYH7 gene, results from an A to G substitution at nucleotide position 2260. The asparagine at codon 754 is replaced by aspartic acid, an amino acid with highly similar properties. This alteration is located in the myosin head domain, which contains a statistically significant clustering of pathogenic missense variants (Homburger JR et al. Proc Natl Acad Sci U S A, 2016 06;113:6701-6; Walsh R et al. Genet Med, 2017 02;19:192-203; Ambry internal data). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated 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: Sep 29, 2024