NM_001943.5(DSG2):c.2110A>G (p.Ile704Val) AND Primary familial hypertrophic cardiomyopathy

Clinical significance:Uncertain significance (Last evaluated: Jun 25, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000208311.1

Allele description [Variation Report for NM_001943.5(DSG2):c.2110A>G (p.Ile704Val)]

NM_001943.5(DSG2):c.2110A>G (p.Ile704Val)

Genes:
DSG2-AS1:DSG2 antisense RNA 1 [Gene - HGNC]
DSG2:desmoglein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_001943.5(DSG2):c.2110A>G (p.Ile704Val)
HGVS:
  • NC_000018.10:g.31542628A>G
  • NG_007072.3:g.49387A>G
  • NM_001943.5:c.2110A>GMANE SELECT
  • NP_001934.2:p.Ile704Val
  • LRG_397t1:c.2110A>G
  • LRG_397:g.49387A>G
  • NC_000018.9:g.29122591A>G
  • NM_001943.3:c.2110A>G
  • NM_001943.4:c.2110A>G
Protein change:
I704V
Links:
dbSNP: rs141388237
NCBI 1000 Genomes Browser:
rs141388237
Molecular consequence:
  • NM_001943.5:c.2110A>G - 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
SCV000263855Blueprint Geneticscriteria provided, single submitter
Uncertain significance
(Jun 25, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Blueprint Genetics, SCV000263855.2

#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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