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NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 15, 2021
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:
RCV001762425.4

Allele description [Variation Report for NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser)]

NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser)

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.5422G>A (p.Gly1808Ser)
Other names:
NM_000257.4(MYH7):c.5422G>A; p.Gly1808Ser
HGVS:
  • NC_000014.9:g.23415132C>T
  • NG_007884.1:g.25530G>A
  • NM_000257.4:c.5422G>AMANE SELECT
  • NP_000248.2:p.Gly1808Ser
  • LRG_384t1:c.5422G>A
  • LRG_384:g.25530G>A
  • NC_000014.8:g.23884341C>T
  • NM_000257.2:c.5422G>A
  • NM_000257.3:c.5422G>A
Protein change:
G1808S
Links:
dbSNP: rs369940645
NCBI 1000 Genomes Browser:
rs369940645
Molecular consequence:
  • NM_000257.4:c.5422G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002008875GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Uncertain significance
(Jun 15, 2021)
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, SCV002008875.2

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

Description

Identified in patients with hypertrophic cardiomyopathy (HCM) and sudden cardiac death (SCD) in the published literature (Marsiglia et al., 2013; Homburger et al., 2016; Campuzano et al., 2017); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID#217468; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 24093860, 27247418, 28255936, 31019283, 27535533)

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

Last Updated: Jun 23, 2024