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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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000208765GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Oct 24, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000208765.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot 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)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024