NM_000257.4(MYH7):c.4807G>A (p.Ala1603Thr) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 24, 2017
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:: RCV000620277.3

Allele description [Variation Report for NM_000257.4(MYH7):c.4807G>A (p.Ala1603Thr)]

NM_000257.4(MYH7):c.4807G>A (p.Ala1603Thr)

Genes:

LOC126861897:BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654 [Gene]
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
MHRT:myosin heavy chain associated RNA transcript [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

Preferred name:

NM_000257.4(MYH7):c.4807G>A (p.Ala1603Thr)

Other names:

p.A1603T:GCA>ACA

HGVS:

NC_000014.9:g.23416150C>T
NG_007884.1:g.24512G>A
NM_000257.4:c.4807G>AMANE SELECT
NP_000248.2:p.Ala1603Thr
LRG_384t1:c.4807G>A
LRG_384:g.24512G>A
NC_000014.8:g.23885359C>T
NM_000257.2:c.4807G>A
NM_000257.3:c.4807G>A
NR_126491.1:n.411C>T

Protein change:

A1603T

Links:

dbSNP: rs730880809

NCBI 1000 Genomes Browser:

rs730880809

Molecular consequence:

NM_000257.4:c.4807G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_126491.1:n.411C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000735988	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 24, 2017)	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

SCV000735988

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 24, 2017)

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

Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.

Millat G, Chanavat V, Créhalet H, Rousson R.

Clin Chim Acta. 2010 Dec 14;411(23-24):1983-91. doi: 10.1016/j.cca.2010.08.017. Epub 2010 Aug 26.

PubMed [citation]

PMID:: 20800588

Details of each submission

From Ambry Genetics, SCV000735988.5

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

Description

The p.A1603T variant (also known as c.4807G>A), located in coding exon 32 of the MYH7 gene, results from a G to A substitution at nucleotide position 4807. The alanine at codon 1603 is replaced by threonine, an amino acid with similar properties. This alteration was reported in a cohort of individuals with hypertrophic cardiomyopathy; however, limited clinical information was provided (Millat G et al. Clin. Chim. Acta, 2010 Dec;411:1983-91). 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.

#	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: Nov 10, 2024

ClinVar

Relating variation to medicine