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NM_024422.6(DSC2):c.517A>T (p.Ile173Leu) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 2, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002339410.2

Allele description [Variation Report for NM_024422.6(DSC2):c.517A>T (p.Ile173Leu)]

NM_024422.6(DSC2):c.517A>T (p.Ile173Leu)

Gene:
DSC2:desmocollin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_024422.6(DSC2):c.517A>T (p.Ile173Leu)
HGVS:
  • NC_000018.10:g.31089552T>A
  • NG_008208.2:g.17874A>T
  • NM_004949.5:c.517A>T
  • NM_024422.6:c.517A>TMANE SELECT
  • NP_004940.1:p.Ile173Leu
  • NP_077740.1:p.Ile173Leu
  • LRG_400:g.17874A>T
  • NC_000018.9:g.28669515T>A
  • NM_024422.3:c.517A>T
Protein change:
I173L
Links:
dbSNP: rs766855728
NCBI 1000 Genomes Browser:
rs766855728
Molecular consequence:
  • NM_004949.5:c.517A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024422.6:c.517A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002643135Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 2, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002643135.2

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

Description

The p.I173L variant (also known as c.517A>T), located in coding exon 5 of the DSC2 gene, results from an A to T substitution at nucleotide position 517. The isoleucine at codon 173 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024