NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro) AND Cardiovascular phenotype

Clinical significance:Likely benign (Last evaluated: Mar 7, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000618191.1

Allele description [Variation Report for NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro)]

NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro)

Gene:
DSG2:desmoglein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro)
HGVS:
  • NC_000018.10:g.31538880T>C
  • NG_007072.3:g.45639T>C
  • NM_001943.5:c.1781T>CMANE SELECT
  • NP_001934.2:p.Leu594Pro
  • LRG_397t1:c.1781T>C
  • LRG_397:g.45639T>C
  • NC_000018.9:g.29118843T>C
  • NM_001943.3:c.1781T>C
  • NM_001943.4:c.1781T>C
  • c.1781T>C
Protein change:
L594P
Links:
dbSNP: rs199681901
NCBI 1000 Genomes Browser:
rs199681901
Molecular consequence:
  • NM_001943.5:c.1781T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000735732Ambry Geneticscriteria provided, single submitter
Likely benign
(Mar 7, 2018)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise.

Kapplinger JD, Landstrom AP, Salisbury BA, Callis TE, Pollevick GD, Tester DJ, Cox MG, Bhuiyan Z, Bikker H, Wiesfeld AC, Hauer RN, van Tintelen JP, Jongbloed JD, Calkins H, Judge DP, Wilde AA, Ackerman MJ.

J Am Coll Cardiol. 2011 Jun 7;57(23):2317-27. doi: 10.1016/j.jacc.2010.12.036.

PubMed [citation]
PMID:
21636032

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

Details of each submission

From Ambry Genetics, SCV000735732.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 6, 2021

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