NM_001943.5(DSG2):c.3175T>A (p.Ser1059Thr) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Aug 27, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000156218.1

Allele description [Variation Report for NM_001943.5(DSG2):c.3175T>A (p.Ser1059Thr)]

NM_001943.5(DSG2):c.3175T>A (p.Ser1059Thr)

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.3175T>A (p.Ser1059Thr)
HGVS:
  • NC_000018.10:g.31546561T>A
  • NG_007072.3:g.53320T>A
  • NM_001943.5:c.3175T>AMANE SELECT
  • NP_001934.2:p.Ser1059Thr
  • LRG_397t1:c.3175T>A
  • LRG_397:g.53320T>A
  • NC_000018.9:g.29126524T>A
  • NM_001943.3:c.3175T>A
  • NM_001943.4:c.3175T>A
Protein change:
S1059T
Links:
dbSNP: rs201786158
NCBI 1000 Genomes Browser:
rs201786158
Molecular consequence:
  • NM_001943.5:c.3175T>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000205934Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Aug 27, 2014)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided22not providednot providednot providedclinical testing

Citations

PubMed

Interpreting secondary cardiac disease variants in an exome cohort.

Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program..

Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16.

PubMed [citation]
PMID:
23861362
PMCID:
PMC3887521

Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression.

Sen-Chowdhry S, Syrris P, Ward D, Asimaki A, Sevdalis E, McKenna WJ.

Circulation. 2007 Apr 3;115(13):1710-20. Epub 2007 Mar 19.

PubMed [citation]
PMID:
17372169
See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000205934.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (3)

Description

The Ser1059Thr variant in DSG2 has been reported in the homozygous state in 1 Pa kistani individual with ARVD/C, though family members were not available for eva luation (Sen-Chowdhry 2007). This variant has also previously been identified by our laboratory in 1 Bangladeshi individual with clinical features of DCM. It ha s also been identified in 1/1740 chromosomes by the ClinSeq project (Ng 2013, db SNP rs201786158). Computational prediction tools and conservation analysis sugge st that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significan ce of the Ser1059Thr variant is uncertain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided2not provided

Last Updated: Aug 17, 2021

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