NM_000257.4(MYH7):c.860A>G (p.Tyr287Cys) AND Left ventricular noncompaction cardiomyopathy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 4, 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:: RCV000143920.1

Allele description [Variation Report for NM_000257.4(MYH7):c.860A>G (p.Tyr287Cys)]

NM_000257.4(MYH7):c.860A>G (p.Tyr287Cys)

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.860A>G (p.Tyr287Cys)

HGVS:

NC_000014.9:g.23430936T>C
NG_007884.1:g.9726A>G
NM_000257.4:c.860A>GMANE SELECT
NP_000248.2:p.Tyr287Cys
LRG_384t1:c.860A>G
LRG_384:g.9726A>G
NC_000014.8:g.23900145T>C
NM_000257.2:c.860A>G

Protein change:

Y287C

Links:

dbSNP: rs587782961

NCBI 1000 Genomes Browser:

rs587782961

Molecular consequence:

NM_000257.4:c.860A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Left ventricular noncompaction cardiomyopathy
Identifiers:: MedGen: C4021133; Human Phenotype Ontology: HP:0011664

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
SCV000188794	Blueprint Genetics	no assertion criteria provided	Likely pathogenic (Feb 4, 2014)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000188794

Blueprint Genetics

no assertion criteria provided

Likely pathogenic
(Feb 4, 2014)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV000188794.1

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

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

Last Updated: Nov 5, 2022

ClinVar

Relating variation to medicine