NM_001943.5(DSG2):c.990C>G (p.Asn330Lys) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Nov 10, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_001943.5(DSG2):c.990C>G (p.Asn330Lys)]

NM_001943.5(DSG2):c.990C>G (p.Asn330Lys)

DSG2:desmoglein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_001943.5(DSG2):c.990C>G (p.Asn330Lys)
  • NC_000018.10:g.31524864C>G
  • NG_007072.3:g.31623C>G
  • NM_001943.5:c.990C>GMANE SELECT
  • NP_001934.2:p.Asn330Lys
  • LRG_397t1:c.990C>G
  • LRG_397:g.31623C>G
  • NC_000018.9:g.29104827C>G
  • NM_001943.3:c.990C>G
Protein change:
dbSNP: rs140575919
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001943.5:c.990C>G - missense variant - [Sequence Ontology: SO:0001583]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000572213GeneDxcriteria provided, single submitter
Uncertain significance
(Nov 10, 2016)
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, SCV000572213.4

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


A variant of uncertain significance has been identified in the DSG2 gene. The N330K variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The N330K variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. 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 N330K variant. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or benign.

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

Last Updated: Feb 27, 2021

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