NM_000257.4(MYH7):c.2785GAG[2] (p.Glu931del) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 24, 2019
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:: RCV000158830.3

Allele description [Variation Report for NM_000257.4(MYH7):c.2785GAG[2] (p.Glu931del)]

NM_000257.4(MYH7):c.2785GAG[2] (p.Glu931del)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

14q11.2

Genomic location:

Preferred name:

NM_000257.4(MYH7):c.2785GAG[2] (p.Glu931del)

Other names:

NM_000257.3(MYH7):c.2791_2793delGAG; NM_000257.4(MYH7):c.2785_2787GAG[2]

HGVS:

NC_000014.9:g.23424036CTC[2]
NG_007884.1:g.16618GAG[2]
NM_000257.4:c.2785GAG[2]MANE SELECT
NP_000248.2:p.Glu931del
LRG_384t1:c.2791_2793del
LRG_384:g.16618GAG[2]
NC_000014.8:g.23893245CTC[2]
NC_000014.8:g.23893245_23893247delCTC
NC_000014.9:g.23424036_23424038CTC[2]
NC_000014.9:g.23424036_23424038delCTC
NM_000257.2:c.2791_2793del
NM_000257.2:c.2791_2793delGAG
NM_000257.3:c.2791_2793del
NM_000257.3:c.2791_2793delGAG
c.2791_2793delGAG
p.E931del

Protein change:

E931del

Links:

dbSNP: rs397516172

NCBI 1000 Genomes Browser:

rs397516172

Molecular consequence:

NM_000257.4:c.2785GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV000208765	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Oct 24, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000208765

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Oct 24, 2019)

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, SCV000208765.10

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

Description

In-frame deletion of one amino acid, also referred to as E930del in the published literature due to alternate nomenclature; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported in ClinVar as likely pathogenic by the ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel (ClinVar Variant ID 42934 ; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 9829907, 31006259, 12707239, 29300372, 27532257)

#	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: Apr 20, 2024

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