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NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 16, 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:
RCV000619201.2

Allele description [Variation Report for NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr)]

NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr)

Gene:
MYH6:myosin heavy chain 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr)
HGVS:
  • NC_000014.9:g.23384714C>T
  • NG_023444.1:g.28564G>A
  • NM_002471.4:c.5293G>AMANE SELECT
  • NP_002462.2:p.Ala1765Thr
  • NP_002462.2:p.Ala1765Thr
  • LRG_389t1:c.5293G>A
  • LRG_389:g.28564G>A
  • LRG_389p1:p.Ala1765Thr
  • NC_000014.8:g.23853923C>T
  • NM_002471.3:c.5293G>A
  • c.5293G>A
Protein change:
A1765T
Links:
dbSNP: rs397516775
NCBI 1000 Genomes Browser:
rs397516775
Molecular consequence:
  • NM_002471.4:c.5293G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000735750Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Sep 16, 2021) 		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 providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

van Lint FHM, Mook ORF, Alders M, Bikker H, Lekanne Dit Deprez RH, Christiaans I.

Neth Heart J. 2019 Jun;27(6):304-309. doi: 10.1007/s12471-019-1250-5.

PubMed [citation]
PMID:
30847666
PMCID:
PMC6533346

Details of each submission

From Ambry Genetics, SCV000735750.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.A1765T variant (also known as c.5293G>A), located in coding exon 34 of the MYH6 gene, results from a G to A substitution at nucleotide position 5293. The alanine at codon 1765 is replaced by threonine, an amino acid with similar properties. This variant co-occurred with variants in other cardiac-related genes in an individual with unspecified cardiomyopathy (van Lint FHM et al. Neth Heart J. 2019 Jun;27(6):304-309). This amino acid position is highly 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