NM_001943.5(DSG2):c.3135A>C (p.Thr1045=) AND Cardiac arrhythmia

Clinical significance:Benign (Last evaluated: Mar 13, 2015)

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:
RCV000029671.1

Allele description [Variation Report for NM_001943.5(DSG2):c.3135A>C (p.Thr1045=)]

NM_001943.5(DSG2):c.3135A>C (p.Thr1045=)

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.3135A>C (p.Thr1045=)
HGVS:
  • NC_000018.10:g.31546521A>C
  • NG_007072.3:g.53280A>C
  • NM_001943.5:c.3135A>CMANE SELECT
  • NP_001934.2:p.Thr1045=
  • LRG_397t1:c.3135A>C
  • LRG_397:g.53280A>C
  • NC_000018.9:g.29126484A>C
  • NM_001943.3:c.3135A>C
  • NM_001943.4:c.3135A>C
  • c.3135A>C
Links:
dbSNP: rs8095704
NCBI 1000 Genomes Browser:
rs8095704
Molecular consequence:
  • NM_001943.5:c.3135A>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiac arrhythmia (VACRDS)
Synonyms:
RYR2 CALCIUM RELEASE DEFICIENCY SYNDROME
Identifiers:
MONDO: MONDO:0020745; MedGen: C0003811; OMIM: 115000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000052323Women's Health and Genetics/Laboratory Corporation of America, LabCorpno assertion criteria providedBenign
(Mar 13, 2015)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000052323.2

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

Last Updated: Oct 6, 2021

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