NM_001943.5(DSG2):c.2780C>T (p.Pro927Leu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Feb 26, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000181233.4

Allele description [Variation Report for NM_001943.5(DSG2):c.2780C>T (p.Pro927Leu)]

NM_001943.5(DSG2):c.2780C>T (p.Pro927Leu)

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.2780C>T (p.Pro927Leu)
Other names:
p.P927L:CCA>CTA
HGVS:
  • NC_000018.10:g.31546166C>T
  • NG_007072.3:g.52925C>T
  • NM_001943.5:c.2780C>TMANE SELECT
  • NP_001934.2:p.Pro927Leu
  • LRG_397t1:c.2780C>T
  • LRG_397:g.52925C>T
  • NC_000018.9:g.29126129C>T
  • NM_001943.3:c.2780C>T
  • NM_001943.4:c.2780C>T
Protein change:
P927L
Links:
dbSNP: rs146402368
NCBI 1000 Genomes Browser:
rs146402368
Molecular consequence:
  • NM_001943.5:c.2780C>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
SCV000233512GeneDxcriteria provided, single submitter
Uncertain significance
(Feb 26, 2018)
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, SCV000233512.11

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

Description

The P927L variant has been reported in one patient with sudden arrhythmogenic death syndrome (Hata et al., 2016). Ohno et al. (2013) reported this variant in one patient with a possible diagnosis of ARVC and in a patient with a definitive diagnosis of ARVC; however, the latter patient also harbored a nonsense variant in the PKP2 gene. The P927L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Nevertheless, this variant is observed in the Exome Aggregation Consortium (ExAC) data set in 49/17240 (0.28%) alleles from individuals of East Asian ancestry, suggesting it may be a benign variant (Lek et al., 2016).

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

Last Updated: Oct 8, 2021

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