NM_000257.4(MYH7):c.5769del (p.Ser1924fs) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 11, 2020
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:: RCV001562468.2

Allele description [Variation Report for NM_000257.4(MYH7):c.5769del (p.Ser1924fs)]

NM_000257.4(MYH7):c.5769del (p.Ser1924fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

14q11.2

Genomic location:

Preferred name:

NM_000257.4(MYH7):c.5769del (p.Ser1924fs)

HGVS:

NC_000014.9:g.23413780del
NG_007884.1:g.26882del
NM_000257.4:c.5769delMANE SELECT
NP_000248.2:p.Ser1924fs
LRG_384t1:c.5769del
LRG_384:g.26882del
NC_000014.8:g.23882989del
NM_000257.2:c.5769delG
NM_000257.3:c.5769del
NM_000257.3:c.5769delG
NM_000257.4:c.5769delGMANE SELECT

Protein change:

S1924fs

Links:

dbSNP: rs1892066954

NCBI 1000 Genomes Browser:

rs1892066954

Molecular consequence:

NM_000257.4:c.5769del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001785235	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Aug 11, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001785235

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Aug 11, 2020)

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

Details of each submission

From GeneDx, SCV001785235.1

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

Description

Not observed in large population cohorts (Lek et al., 2016); Frameshift variant predicted to result in protein truncation as the last 12 amino acids are replaced with 9 different amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Identified in individuals referred for hypertrophic cardiomyopathy, but segregation data are limited or absent at this time (Kassem et al., 2013; Berge et al., 2014); This variant is associated with the following publications: (PMID: 28971120, 23233322, 24111713)

#	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: Sep 29, 2024

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