NM_001943.5(DSG2):c.523+1G>C AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: Sep 17, 2014)

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:
RCV000505605.1

Allele description [Variation Report for NM_001943.5(DSG2):c.523+1G>C]

NM_001943.5(DSG2):c.523+1G>C

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.523+1G>C
HGVS:
  • NC_000018.10:g.31521244G>C
  • NG_007072.3:g.28003G>C
  • NM_001943.5:c.523+1G>CMANE SELECT
  • LRG_397t1:c.523+1G>C
  • LRG_397:g.28003G>C
  • NC_000018.9:g.29101207G>C
  • NM_001943.3:c.523+1G>C
Links:
dbSNP: rs553299589
NCBI 1000 Genomes Browser:
rs553299589
Molecular consequence:
  • NM_001943.5:c.523+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Arrhythmogenic right ventricular cardiomyopathy, type 10 (ARVD10)
Synonyms:
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; Arrhythmogenic right ventricular dysplasia type 10; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy10
Identifiers:
MONDO: MONDO:0012434; MedGen: C1857777; OMIM: 610193
Name:
Dilated cardiomyopathy 1BB (CMD1BB)
Synonyms:
CARDIOMYOPATHY, DILATED, 1BB, SUSCEPTIBILITY TO
Identifiers:
MONDO: MONDO:0013030; MedGen: C2752072; Orphanet: 154; OMIM: 612877

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000599976Donald Williams Parsons Laboratory,Baylor College of Medicine - CSER-BASIC3

See additional submitters

no assertion criteria providedPathogenic
(Sep 17, 2014)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Causasiansgermlineunknown11not providednot providednot providedresearch

Citations

PubMed

Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.

Parsons DW, Roy A, Yang Y, Wang T, Scollon S, Bergstrom K, Kerstein RA, Gutierrez S, Petersen AK, Bavle A, Lin FY, López-Terrada DH, Monzon FA, Hicks MJ, Eldin KW, Quintanilla NM, Adesina AM, Mohila CA, Whitehead W, Jea A, Vasudevan SA, Nuchtern JG, et al.

JAMA Oncol. 2016 May 1;2(5):616-624. doi: 10.1001/jamaoncol.2015.5699.

PubMed [citation]
PMID:
26822237
PMCID:
PMC5471125

Details of each submission

From Donald Williams Parsons Laboratory,Baylor College of Medicine - CSER-BASIC3, SCV000599976.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Causasians1not providednot providedresearch
(GTR000508680.4)
PubMed (1)

Description

This splice site variant is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was an incidental finding in our study, in a 4-year-old female with mixed neuroglial tumor.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided
(GTR000508680.4)
1not provided1not provided

Last Updated: Oct 7, 2021

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