U.S. flag

An official website of the United States government

NM_000257.4(MYH7):c.5302G>A (p.Glu1768Lys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 21, 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:
RCV000766469.1

Allele description [Variation Report for NM_000257.4(MYH7):c.5302G>A (p.Glu1768Lys)]

NM_000257.4(MYH7):c.5302G>A (p.Glu1768Lys)

Genes:
LOC126861897:BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654 [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.5302G>A (p.Glu1768Lys)
Other names:
NM_000257.3(MYH7):c.5302G>A
HGVS:
  • NC_000014.9:g.23415252C>T
  • NG_007884.1:g.25410G>A
  • NM_000257.4:c.5302G>AMANE SELECT
  • NP_000248.2:p.Glu1768Lys
  • LRG_384t1:c.5302G>A
  • LRG_384:g.25410G>A
  • NC_000014.8:g.23884461C>T
  • NM_000257.2:c.5302G>A
  • NM_000257.3:c.5302G>A
  • P12883:p.Glu1768Lys
  • c.5302G>A
Protein change:
E1768K
Links:
UniProtKB: P12883#VAR_042837; dbSNP: rs397516241
NCBI 1000 Genomes Browser:
rs397516241
Molecular consequence:
  • NM_000257.4:c.5302G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000208807GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Uncertain significance
(Dec 21, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000208807.11

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

Description

The E1768K variant in the MYH7 gene has been reported previously in association with HCM and it was not observed in 400 control alleles from individuals of African American and Caucasian ethnic backgrounds (Van Driest et al., 2004). The E1768K 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. E1768K results in a non-conservative amino acid substitution of a negatively charged Glutamic acid with a positively charged Lysine residue at a position that is highly conserved throughout evolution. Furthermore, missense variants in nearby residues (A1763T, A1766T, L1769M) have been reported in the Human Gene Mutation Database in association with HCM (Stenson et al., 2014). Additionally, E1768K has been observed in multiple unrelated individuals tested for HCM Nevertheless, functional studies show that the E1768K variant had MHC incorporation into myofibrils similar to wild type cells (Wolny et al., 2013). Finally, another clinical laboratory classifies E1768K as a variant of uncertain significance in ClinVar (Landrum et al., 2014).

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

Last Updated: Feb 20, 2024