NM_000257.4(MYH7):c.794C>A (p.Thr265Asn) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 16, 2012
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:: RCV000223793.2

Allele description [Variation Report for NM_000257.4(MYH7):c.794C>A (p.Thr265Asn)]

NM_000257.4(MYH7):c.794C>A (p.Thr265Asn)

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.794C>A (p.Thr265Asn)

HGVS:

NC_000014.9:g.23431420G>T
NG_007884.1:g.9242C>A
NM_000257.4:c.794C>AMANE SELECT
NP_000248.2:p.Thr265Asn
LRG_384t1:c.794C>A
LRG_384:g.9242C>A
NC_000014.8:g.23900629G>T
NM_000257.2:c.794C>A
NM_000257.3:c.794C>A

Protein change:

T265N

Links:

dbSNP: rs876661375

NCBI 1000 Genomes Browser:

rs876661375

Molecular consequence:

NM_000257.4:c.794C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000280359	Stanford Center for Inherited Cardiovascular Disease, Stanford University	no assertion criteria provided	Uncertain significance (Jan 16, 2012)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000280359

Stanford Center for Inherited Cardiovascular Disease, Stanford University

no assertion criteria provided

Uncertain significance
(Jan 16, 2012)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Stanford Center for Inherited Cardiovascular Disease, Stanford University, SCV000280359.1

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

Description

Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. MYH7 p.Thr265Asn (c.794C>A) The variant is novel. There is no variation at codon 265 listed in the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/), which currently includes variant calls on ~64,000 individuals of European, African, Latino and Asian descent (as of December 22nd, 2014).

#	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		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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