NM_000257.4(MYH7):c.1357C>A (p.Arg453Ser) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 7, 2014
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000154254.5

Allele description [Variation Report for NM_000257.4(MYH7):c.1357C>A (p.Arg453Ser)]

NM_000257.4(MYH7):c.1357C>A (p.Arg453Ser)

Gene:

MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

Preferred name:

NM_000257.4(MYH7):c.1357C>A (p.Arg453Ser)

Other names:

NM_000257.4(MYH7):c.1357C>A

HGVS:

NC_000014.9:g.23429005G>T
NG_007884.1:g.11657C>A
NM_000257.4:c.1357C>AMANE SELECT
NP_000248.2:p.Arg453Ser
LRG_384t1:c.1357C>A
LRG_384:g.11657C>A
NC_000014.8:g.23898214G>T
NM_000257.2:c.1357C>A
P12883:p.Arg453Ser

Protein change:

R453S; ARG453SER

Links:

UniProtKB: P12883#VAR_073880; OMIM: 160760.0043; dbSNP: rs121913625

NCBI 1000 Genomes Browser:

rs121913625

Molecular consequence:

NM_000257.4:c.1357C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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
SCV000203909	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	no assertion criteria provided	Uncertain significance (Mar 7, 2014)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 12084606, 12881443, 15856146, 12951062, 11133230

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000203909

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

no assertion criteria provided

Uncertain significance
(Mar 7, 2014)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	2	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective.

Ackerman MJ, VanDriest SL, Ommen SR, Will ML, Nishimura RA, Tajik AJ, Gersh BJ.

J Am Coll Cardiol. 2002 Jun 19;39(12):2042-8.

PubMed [citation]

PMID:: 12084606

Hypertrophic cardiomyopathy: low frequency of mutations in the beta-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes among Spanish patients.

García-Castro M, Reguero JR, Batalla A, Díaz-Molina B, González P, Alvarez V, Cortina A, Cubero GI, Coto E.

Clin Chem. 2003 Aug;49(8):1279-85.

PubMed [citation]

PMID:: 12881443

See all PubMed Citations (5)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000203909.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (5)

Description

proposed classification - variant undergoing re-assessment, contact laboratory

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		2	not provided	1	not provided

Last Updated: Dec 24, 2022

ClinVar

Relating variation to medicine