NM_001943.5(DSG2):c.961T>A (p.Phe321Ile) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Apr 18, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000426540.1

Allele description [Variation Report for NM_001943.5(DSG2):c.961T>A (p.Phe321Ile)]

NM_001943.5(DSG2):c.961T>A (p.Phe321Ile)

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.961T>A (p.Phe321Ile)
HGVS:
  • NC_000018.10:g.31524835T>A
  • NG_007072.3:g.31594T>A
  • NM_001943.5:c.961T>AMANE SELECT
  • NP_001934.2:p.Phe321Ile
  • LRG_397t1:c.961T>A
  • LRG_397:g.31594T>A
  • NC_000018.9:g.29104798T>A
  • NM_001943.3:c.961T>A
  • NM_001943.4:c.961T>A
Protein change:
F321I
Links:
dbSNP: rs201040643
NCBI 1000 Genomes Browser:
rs201040643
Molecular consequence:
  • NM_001943.5:c.961T>A - 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
SCV000520832GeneDxcriteria provided, single submitter
Uncertain significance
(Apr 18, 2017)
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, SCV000520832.3

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

Description

The F321I variant of uncertain significance in the DSG2 gene has previously been reported in one individual meeting diagnostic criteria for ARVC, however, family history and segregation data was not provided (Xu et al., 2010). This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, to our knowledge no studies have been performed to determine the functional effect of the F321I variant. Furthermore, the F321I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties.

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

Last Updated: Oct 8, 2021

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