NM_000257.4(MYH7):c.4341G>A (p.Arg1447=) AND Cardiovascular phenotype

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 10, 2012
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:: RCV000248788.1

Allele description [Variation Report for NM_000257.4(MYH7):c.4341G>A (p.Arg1447=)]

NM_000257.4(MYH7):c.4341G>A (p.Arg1447=)

Genes:

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.4341G>A (p.Arg1447=)

HGVS:

NC_000014.9:g.23417515C>T
NG_007884.1:g.23147G>A
NM_000257.4:c.4341G>AMANE SELECT
NP_000248.2:p.Arg1447=
LRG_384t1:c.4341G>A
LRG_384:g.23147G>A
NC_000014.8:g.23886724C>T
NM_000257.2:c.4341G>A

Links:

dbSNP: rs778233579

NCBI 1000 Genomes Browser:

rs778233579

Molecular consequence:

NM_000257.4:c.4341G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Trimethoprim, Sulfamethoxazole Drug Combination
Trimethoprim, Sulfamethoxazole Drug Combination
A drug combination with broad-spectrum antibacterial activity against both gram-positive and gram-negative organisms. It is effective in the treatment of many infections, incl...<br/>Year introduced: 2016 (1990)

MeSH

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
SCV000317522	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (10/2015))	Likely benign (Aug 10, 2012)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000317522

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))

Likely benign
(Aug 10, 2012)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000317522.5

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

Description

This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Nov 5, 2022

ClinVar

Relating variation to medicine