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NM_000257.4(MYH7):c.3883G>A (p.Glu1295Lys) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 29, 2014
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:
RCV000158623.2

Allele description [Variation Report for NM_000257.4(MYH7):c.3883G>A (p.Glu1295Lys)]

NM_000257.4(MYH7):c.3883G>A (p.Glu1295Lys)

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.3883G>A (p.Glu1295Lys)
Other names:
p.E1295K:GAG>AAG; NM_000257.4(MYH7):c.3883G>A; p.Glu1295Lys
HGVS:
  • NC_000014.9:g.23419266C>T
  • NG_007884.1:g.21396G>A
  • NM_000257.4:c.3883G>AMANE SELECT
  • NP_000248.2:p.Glu1295Lys
  • LRG_384t1:c.3883G>A
  • LRG_384:g.21396G>A
  • NC_000014.8:g.23888475C>T
  • NM_000257.2:c.3883G>A
  • NM_000257.3:c.3883G>A
Protein change:
E1295K
Links:
dbSNP: rs730880785
NCBI 1000 Genomes Browser:
rs730880785
Molecular consequence:
  • NM_000257.4:c.3883G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000208558GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Jul 29, 2014) 		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, SCV000208558.10

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

Description

p.Glu1295Lys (GAG>AAG): c.3883 G>A in exon 29 of the MYH7 gene (NM_000257.2). A E1295K variant that is likely pathogenic was identified in the MYH7 gene. The E1295K variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The E1295K 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. The E1295K 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. In silico analysis predicts this variant is probably damaging to the protein structure/function. This substitution occurs at a position that is class conserved across species. Additionally, missense mutations in nearby residues (E1286K, L1297V) have been reported in association with cardiomyopathy, supporting the functional importance of this region of the protein. Therefore, this variant is a strong candidate for a pathogenic mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in DCM-CRDM panel(s).

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

Last Updated: Nov 3, 2024