NM_001943.4(DSG2):c.941C>A (p.Ser314Ter) AND Arrhythmogenic right ventricular cardiomyopathy

Clinical significance:Likely pathogenic (Last evaluated: Mar 20, 2012)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000037320.2

Allele description [Variation Report for NM_001943.4(DSG2):c.941C>A (p.Ser314Ter)]

NM_001943.4(DSG2):c.941C>A (p.Ser314Ter)

Gene:
DSG2:desmoglein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_001943.4(DSG2):c.941C>A (p.Ser314Ter)
HGVS:
  • NC_000018.10:g.31524815C>A
  • NG_007072.3:g.31574C>A
  • NM_001943.4:c.941C>A
  • NP_001934.2:p.Ser314Ter
  • LRG_397t1:c.941C>A
  • LRG_397:g.31574C>A
  • LRG_397p1:p.Ser314Ter
  • NC_000018.9:g.29104778C>A
  • NM_001943.3:c.941C>A
  • c.941C>A
  • p.Ser314X
Protein change:
S314*
Links:
dbSNP: 397516712
NCBI 1000 Genomes Browser:
rs397516712
Molecular consequence:
  • NM_001943.4:c.941C>A - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Arrhythmogenic right ventricular cardiomyopathy (ARVD)
Synonyms:
Arrhythmogenic right ventricular dysplasia
Identifiers:
MedGen: C0349788

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000060977Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicinecriteria provided, single submitter
(LMM Criteria)
Likely pathogenic
(Mar 20, 2012)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine, SCV000060977.4

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

Description

The Ser314X variant has not been reported in the literature but has been previously identified in one individual with ARVC by our laboratory. This nonsense variant leads to a premature termination codon at position 324, which is predicted to lead to a truncated or absent protein. In summary, this variant is likely to be pathogenic, though segregation studies and functional analyses are required to fully establish the pathogenicity of this variant.

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

Last Updated: Aug 26, 2016