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NM_002471.4(MYH6):c.5089A>G (p.Thr1697Ala) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 19, 2022
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:
RCV004019815.1

Allele description [Variation Report for NM_002471.4(MYH6):c.5089A>G (p.Thr1697Ala)]

NM_002471.4(MYH6):c.5089A>G (p.Thr1697Ala)

Genes:
LOC126861896:BRD4-independent group 4 enhancer GRCh37_chr14:23854904-23856103 [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.5089A>G (p.Thr1697Ala)
HGVS:
  • NC_000014.9:g.23386002T>C
  • NG_023444.1:g.27276A>G
  • NM_002471.4:c.5089A>GMANE SELECT
  • NP_002462.2:p.Thr1697Ala
  • NP_002462.2:p.Thr1697Ala
  • LRG_389t1:c.5089A>G
  • LRG_389:g.27276A>G
  • LRG_389p1:p.Thr1697Ala
  • NC_000014.8:g.23855211T>C
  • NM_002471.3:c.5089A>G
Protein change:
T1697A
Links:
dbSNP: rs727503233
NCBI 1000 Genomes Browser:
rs727503233
Molecular consequence:
  • NM_002471.4:c.5089A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003600725Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Jan 19, 2022)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003600725.2

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

Description

The c.5089A>G (p.T1697A) alteration is located in exon 34 (coding exon 32) of the MYH6 gene. This alteration results from a A to G substitution at nucleotide position 5089, causing the threonine (T) at amino acid position 1697 to be replaced by an alanine (A). Based on insufficient or conflicting 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 24, 2024