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NM_001943.5(DSG2):c.902T>C (p.Ile301Thr) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 13, 2020
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:
RCV002370707.2

Allele description [Variation Report for NM_001943.5(DSG2):c.902T>C (p.Ile301Thr)]

NM_001943.5(DSG2):c.902T>C (p.Ile301Thr)

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.902T>C (p.Ile301Thr)
HGVS:
  • NC_000018.10:g.31524776T>C
  • NG_007072.3:g.31535T>C
  • NM_001943.5:c.902T>CMANE SELECT
  • NP_001934.2:p.Ile301Thr
  • LRG_397t1:c.902T>C
  • LRG_397:g.31535T>C
  • NC_000018.9:g.29104739T>C
  • NM_001943.3:c.902T>C
Protein change:
I301T
Links:
dbSNP: rs1370553229
NCBI 1000 Genomes Browser:
rs1370553229
Molecular consequence:
  • NM_001943.5:c.902T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002683533Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 13, 2020) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis.

Taylan F, Nilsson D, Asad S, Lieden A, Wahlgren CF, Winge MC, Bilcha KD, Nordenskjöld M, Bradley M.

J Allergy Clin Immunol. 2015 Aug;136(2):507-9.e19. doi: 10.1016/j.jaci.2015.02.010. Epub 2015 Mar 26. No abstract available.

PubMed [citation]
PMID:
25819062

Details of each submission

From Ambry Genetics, SCV002683533.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.I301T variant (also known as c.902T>C), located in coding exon 8 of the DSG2 gene, results from a T to C substitution at nucleotide position 902. The isoleucine at codon 301 is replaced by threonine, an amino acid with similar properties. This variant has been detected in an ichthyosis vulgaris and atopic dermatitis cohort (Taylan F et al. J Allergy Clin Immunol, 2015 Aug;136:507-9.e19). This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. 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: Feb 25, 2025