NM_002471.4(MYH6):c.161G>A (p.Arg54Gln) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 15, 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:: RCV002390325.3

Allele description [Variation Report for NM_002471.4(MYH6):c.161G>A (p.Arg54Gln)]

NM_002471.4(MYH6):c.161G>A (p.Arg54Gln)

Genes:

LOC114827851:VISTA enhancer hs2155 [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.161G>A (p.Arg54Gln)

HGVS:

NC_000014.9:g.23407063C>T
NG_023444.1:g.6215G>A
NG_065207.1:g.2596C>T
NM_002471.4:c.161G>AMANE SELECT
NP_002462.2:p.Arg54Gln
NP_002462.2:p.Arg54Gln
LRG_389t1:c.161G>A
LRG_389:g.6215G>A
LRG_389p1:p.Arg54Gln
NC_000014.8:g.23876272C>T
NM_002471.3:c.161G>A

Protein change:

R54Q

Links:

dbSNP: rs727503239

NCBI 1000 Genomes Browser:

rs727503239

Molecular consequence:

NM_002471.4:c.161G>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

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002703226	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 15, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002703226

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 15, 2023)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sudden cardiac arrest in patients without overt heart disease: a limited value of next generation sequencing.

Stępień-Wojno M, Ponińska J, Rydzanicz M, Bilińska M, Truszkowska G, Baranowski R, Lutyńska A, Biernacka EK, Stępińska J, Kowalik I, Płoski R, Bilińska ZT.

Pol Arch Intern Med. 2018 Dec 21;128(12):721-730. doi: 10.20452/pamw.4366. Epub 2018 Nov 7.

PubMed [citation]

PMID:: 30403391

Details of each submission

From Ambry Genetics, SCV002703226.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

The p.R54Q variant (also known as c.161G>A), located in coding exon 1 of the MYH6 gene, results from a G to A substitution at nucleotide position 161. The arginine at codon 54 is replaced by glutamine, an amino acid with highly similar properties. This variant has been detected in a sudden cardiac arrest cohort in an individual reported to have long QT syndrome; however, details were limited (Stpie-Wojno M et al. Pol Arch Intern Med. 2018 Dec 21;128(12):721-730). This amino acid position is 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine