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NM_000257.4(MYH7):c.2791G>A (p.Glu931Lys) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 16, 2015
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:
RCV000493293.1

Allele description [Variation Report for NM_000257.4(MYH7):c.2791G>A (p.Glu931Lys)]

NM_000257.4(MYH7):c.2791G>A (p.Glu931Lys)

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.2791G>A (p.Glu931Lys)
HGVS:
  • NC_000014.9:g.23424038C>T
  • NG_007884.1:g.16624G>A
  • NM_000257.4:c.2791G>AMANE SELECT
  • NP_000248.2:p.Glu931Lys
  • LRG_384t1:c.2791G>A
  • LRG_384:g.16624G>A
  • NC_000014.8:g.23893247C>T
  • NM_000257.2:c.2791G>A
Protein change:
E931K
Links:
dbSNP: rs1131691514
NCBI 1000 Genomes Browser:
rs1131691514
Molecular consequence:
  • NM_000257.4:c.2791G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000582277GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Sep 16, 2015) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000582277.3

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

Description

The E931K variant in the MYH7 gene has been reported in association with HCM in two individuals and was absent from 400 control alleles; however, no additional clinical information or segregation analysis was provided (Van Driest et al., 2004; Berge et al., 2014). The E931K variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Variants in nearby residues (E929K, E930Q, E930K, M932K, E935K) have been reported in HGMD in association with HCM (Stenson et al., 2014), further supporting the functional importance of this region of the protein. Furthermore, the E931K variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.Therefore, this variant is a strong candidate for a pathogenic variant however the possibility that it is a benign variant cannot be excluded.

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

Last Updated: Feb 20, 2024