NM_002471.4(MYH6):c.5501G>A (p.Arg1834His) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 5, 2020
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:: RCV002348405.2

Allele description [Variation Report for NM_002471.4(MYH6):c.5501G>A (p.Arg1834His)]

NM_002471.4(MYH6):c.5501G>A (p.Arg1834His)

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.5501G>A (p.Arg1834His)

HGVS:

NC_000014.9:g.23384506C>T
NG_023444.1:g.28772G>A
NM_002471.4:c.5501G>AMANE SELECT
NP_002462.2:p.Arg1834His
LRG_389t1:c.5501G>A
LRG_389:g.28772G>A
NC_000014.8:g.23853715C>T
NM_002471.3:c.5501G>A

Protein change:

R1834H

Links:

dbSNP: rs202132499

NCBI 1000 Genomes Browser:

rs202132499

Molecular consequence:

NM_002471.4:c.5501G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Turcot syndrome [Supplementary Concept]
Turcot syndrome [Supplementary Concept]
Constitutional mismatch repair deficiency is a rare hereditary, autosomal recessive childhood cancer predisposition syndrome with four main tumor types: HEMATOLOGIC NEOPLASMS;...<br/>Date introduced: August 25, 2010<br/>

MeSH
MeSH for MedGen (Select 1748029) (1)
MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002652780	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 5, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002652780

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 5, 2020)

germline

clinical testing

Citation Link

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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

Details of each submission

From Ambry Genetics, SCV002652780.2

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

Description

The p.R1834H variant (also known as c.5501G>A), located in coding exon 34 of the MYH6 gene, results from a G to A substitution at nucleotide position 5501. The arginine at codon 1834 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and histidine is the reference amino acid in other 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: May 1, 2024

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