NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Sep 3, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001195104.1

Allele description [Variation Report for NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys)]

NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys)

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.2434G>T (p.Gly812Cys)
HGVS:
  • NC_000018.10:g.31545820G>T
  • NG_007072.3:g.52579G>T
  • NM_001943.5:c.2434G>TMANE SELECT
  • NP_001934.2:p.Gly812Cys
  • LRG_397t1:c.2434G>T
  • LRG_397:g.52579G>T
  • LRG_397p1:p.Gly812Ser
  • NC_000018.9:g.29125783G>T
  • NG_007072.2:g.52579G>T
  • NM_001943.3:c.2434G>T
  • NM_001943.4:c.2434G>T
  • NP_001934.2:p.Gly812Ser
  • NR_045216.1:n.1432C>A
  • Q14126:p.Gly812Cys
  • c.2434G>T
Note:
NCBI staff reviewed the sequence information reported in PubMed 16773573 to determine the location of this allele on current reference sequence.
Protein change:
G812C
Links:
UniProtKB: Q14126#VAR_029368; OMIM: 125671.0005; dbSNP: rs121913010
NCBI 1000 Genomes Browser:
rs121913010
Molecular consequence:
  • NM_001943.5:c.2434G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_045216.1:n.1432C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

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
SCV000060943Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Sep 3, 2019)
germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown11not providednot providednot providedclinical testing

Citations

PubMed

Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Tan BY, Jain R, den Haan AD, Chen Y, Dalal D, Tandri H, Amat-Alarcon N, Daly A, Tichnell C, James C, Calkins H, Judge DP.

J Cardiovasc Transl Res. 2010 Dec;3(6):663-73. doi: 10.1007/s12265-010-9224-4. Epub 2010 Sep 21.

PubMed [citation]
PMID:
20857253
PMCID:
PMC3138067

Novel missense mutations in exon 15 of desmoglein-2: role of the intracellular cadherin segment in arrhythmogenic right ventricular cardiomyopathy?

Gehmlich K, Asimaki A, Cahill TJ, Ehler E, Syrris P, Zachara E, Re F, Avella A, Monserrat L, Saffitz JE, McKenna WJ.

Heart Rhythm. 2010 Oct;7(10):1446-53. doi: 10.1016/j.hrthm.2010.08.007. Epub 2010 Aug 11.

PubMed [citation]
PMID:
20708101
PMCID:
PMC2994644
See all PubMed Citations (6)

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000060943.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (6)

Description

The p.Gly812Cys variant in DSG2 has been identified in at least 2 individuals with ARVC (Awad 2006, Ambry pers. comm., LMM data). It has also been identified in 0.003% (3/113164) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In contrast, in vitro functional studies do not provide strong support for or against an impact to the protein (Gehmlich 2010). In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3, PS4_Supporting.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not provided1not provided

Last Updated: Sep 29, 2021

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