NM_001943.5(DSG2):c.1945G>A (p.Gly649Ser) AND Primary familial hypertrophic cardiomyopathy

Clinical significance:Uncertain significance (Last evaluated: Aug 22, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000157186.1

Allele description [Variation Report for NM_001943.5(DSG2):c.1945G>A (p.Gly649Ser)]

NM_001943.5(DSG2):c.1945G>A (p.Gly649Ser)

Gene:
DSG2:desmoglein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_001943.5(DSG2):c.1945G>A (p.Gly649Ser)
HGVS:
  • NC_000018.10:g.31541258G>A
  • NG_007072.3:g.48017G>A
  • NM_001943.5:c.1945G>AMANE SELECT
  • NP_001934.2:p.Gly649Ser
  • LRG_397t1:c.1945G>A
  • LRG_397:g.48017G>A
  • NC_000018.9:g.29121221G>A
  • NM_001943.3:c.1945G>A
  • NM_001943.4:c.1945G>A
Protein change:
G649S
Links:
dbSNP: rs730880078
NCBI 1000 Genomes Browser:
rs730880078
Molecular consequence:
  • NM_001943.5:c.1945G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Primary familial hypertrophic cardiomyopathy (HCM)
Synonyms:
Hereditary ventricular hypertrophy; Idiopathic hypertrophic subaortic stenosis
Identifiers:
MONDO: MONDO:0024573; MeSH: D024741; MedGen: C0949658; OMIM: PS192600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000206910Blueprint Geneticsno assertion criteria providedUncertain significance
(Aug 22, 2014)
germlineclinical testing

Description

Found together with likely pathogenic TNNI3:NM_000363.4:c.575G>A

SCV000206910

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Blueprint Genetics, SCV000206910.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2021

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