NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Nov 17, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000431080.2

Allele description [Variation Report for NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter)]

NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter)

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.3039C>A (p.Tyr1013Ter)
HGVS:
  • NC_000018.10:g.31546425C>A
  • NG_007072.3:g.53184C>A
  • NM_001943.5:c.3039C>AMANE SELECT
  • NP_001934.2:p.Tyr1013Ter
  • LRG_397t1:c.3039C>A
  • LRG_397:g.53184C>A
  • NC_000018.9:g.29126388C>A
  • NM_001943.3:c.3039C>A
  • NM_001943.4:c.3039C>A
Protein change:
Y1013*
Links:
dbSNP: rs539821357
NCBI 1000 Genomes Browser:
rs539821357
Molecular consequence:
  • NM_001943.5:c.3039C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000535422GeneDxcriteria provided, single submitter
Uncertain significance
(Nov 17, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000535422.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Nonsense variant predicted to result in protein truncation as the last 106 amino acids are lost, although loss-of-function variants have not been reported downstream of this position in the protein; This variant is associated with the following publications: (PMID: 31931689, 31983221)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2021

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