U.S. flag

An official website of the United States government

NM_000257.4(MYH7):c.3035C>A (p.Ala1012Asp) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 19, 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:
RCV002436162.9

Allele description [Variation Report for NM_000257.4(MYH7):c.3035C>A (p.Ala1012Asp)]

NM_000257.4(MYH7):c.3035C>A (p.Ala1012Asp)

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.3035C>A (p.Ala1012Asp)
HGVS:
  • NC_000014.9:g.23423611G>T
  • NG_007884.1:g.17051C>A
  • NM_000257.4:c.3035C>AMANE SELECT
  • NP_000248.2:p.Ala1012Asp
  • LRG_384t1:c.3035C>A
  • LRG_384:g.17051C>A
  • NC_000014.8:g.23892820G>T
  • NM_000257.2:c.3035C>A
  • NM_000257.3:c.3035C>A
Protein change:
A1012D
Links:
dbSNP: rs779973529
NCBI 1000 Genomes Browser:
rs779973529
Molecular consequence:
  • NM_000257.4:c.3035C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002753456Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 19, 2021) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy.

Ramchand J, Wallis M, Macciocca I, Lynch E, Farouque O, Martyn M, Phelan D, Chong B, Lockwood S, Weintraub R, Thompson T, Trainer A, Zentner D, Vohra J, Chetrit M, Hare DL, James P.

J Am Heart Assoc. 2020 Jan 21;9(2):e013346. doi: 10.1161/JAHA.119.013346. Epub 2020 Jan 14.

PubMed [citation]
PMID:
31931689
PMCID:
PMC7033851

Details of each submission

From Ambry Genetics, SCV002753456.2

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

Description

The p.A1012D variant (also known as c.3035C>A), located in coding exon 22 of the MYH7 gene, results from a C to A substitution at nucleotide position 3035. The alanine at codon 1012 is replaced by aspartic acid, an amino acid with dissimilar properties. This variant was detected in a dilated cardiomyopathy cohort; however, clinical details were limited (Ramchand J et al. J Am Heart Assoc, 2020 01;9:e013346). 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
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024