NM_001943.5(DSG2):c.2335-7A>G AND Primary familial hypertrophic cardiomyopathy

Clinical significance:Uncertain significance (Last evaluated: Dec 8, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000208322.1

Allele description [Variation Report for NM_001943.5(DSG2):c.2335-7A>G]

NM_001943.5(DSG2):c.2335-7A>G

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.2335-7A>G
HGVS:
  • NC_000018.10:g.31545714A>G
  • NG_007072.3:g.52473A>G
  • NM_001943.5:c.2335-7A>GMANE SELECT
  • LRG_397t1:c.2335-7A>G
  • LRG_397:g.52473A>G
  • NC_000018.9:g.29125677A>G
  • NM_001943.3:c.2335-7A>G
Links:
dbSNP: rs528851283
NCBI 1000 Genomes Browser:
rs528851283
Molecular consequence:
  • NM_001943.5:c.2335-7A>G - intron variant - [Sequence Ontology: SO:0001627]
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
SCV000263861Blueprint Geneticscriteria provided, single submitter
Uncertain significance
(Dec 8, 2015)
germlineclinical testing

Citation Link

Description

Found together with pathogenic MYBPC3:NM_000256.3:c.3181C>T

SCV000263861

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Blueprint Genetics, SCV000263861.2

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

Last Updated: Jun 14, 2021

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