NM_001943.5(DSG2):c.14C>T (p.Pro5Leu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jan 3, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000588536.1

Allele description [Variation Report for NM_001943.5(DSG2):c.14C>T (p.Pro5Leu)]

NM_001943.5(DSG2):c.14C>T (p.Pro5Leu)

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.14C>T (p.Pro5Leu)
HGVS:
  • NC_000018.10:g.31498265C>T
  • NG_007072.3:g.5024C>T
  • NM_001943.5:c.14C>TMANE SELECT
  • NP_001934.2:p.Pro5Leu
  • LRG_397t1:c.14C>T
  • LRG_397:g.5024C>T
  • NC_000018.9:g.29078228C>T
  • NM_001943.3:c.14C>T
Protein change:
P5L
Links:
dbSNP: rs530517936
NCBI 1000 Genomes Browser:
rs530517936
Molecular consequence:
  • NM_001943.5:c.14C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000697883Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Uncertain significance
(Jan 3, 2017)
germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000697883.1

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

Description

Variant summary: The DSG2 c.14C>T (p.Pro5Leu) variant involves the alteration of a non-conserved nucleotide, which 2/4 in silico tools (SNPs&GO not captured due to low reliability index) predict a benign outcome, although these predictions have yet to be functionally assessed. The variant of interest was not observed in controls (ExAC, 1000 Gs, or ESP), nor has it been, to our knowledge, reported in affected individuals via publications and/or clinical diagnostic laboratories/databases. Therefore, until additional information becomes available (ie, clinical and functional studies), the variant of interest has been classified as a "Variant of Uncertain Significance (VUS)."

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

Last Updated: Jun 14, 2021

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