NM_000257.4(MYH7):c.5005G>T (p.Glu1669Ter) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 20, 2018
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:: RCV002341217.2

Allele description [Variation Report for NM_000257.4(MYH7):c.5005G>T (p.Glu1669Ter)]

NM_000257.4(MYH7):c.5005G>T (p.Glu1669Ter)

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.5005G>T (p.Glu1669Ter)

HGVS:

NC_000014.9:g.23415781C>A
NG_007884.1:g.24881G>T
NM_000257.4:c.5005G>TMANE SELECT
NP_000248.2:p.Glu1669Ter
LRG_384t1:c.5005G>T
LRG_384:g.24881G>T
NC_000014.8:g.23884990C>A
NM_000257.2:c.5005G>T
NM_000257.3:c.5005G>T
NR_126491.1:n.213C>A

Protein change:

E1669*

Links:

dbSNP: rs45620235

NCBI 1000 Genomes Browser:

rs45620235

Molecular consequence:

NR_126491.1:n.213C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000257.4:c.5005G>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002640758	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 20, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002640758

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 20, 2018)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002640758.2

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

Description

The p.E1669* variant (also known as c.5005G>T), located in coding exon 33 of the MYH7 gene, results from a G to T substitution at nucleotide position 5005. This changes the amino acid from a glutamic acid to a stop codon within coding exon 33. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of MYH7 has not been clearly established as a mechanism of disease. 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: Sep 29, 2024

ClinVar

Relating variation to medicine