NM_024422.6(DSC2):c.1103C>T (p.Thr368Ile) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 20, 2017
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:: RCV000617760.2

Allele description [Variation Report for NM_024422.6(DSC2):c.1103C>T (p.Thr368Ile)]

NM_024422.6(DSC2):c.1103C>T (p.Thr368Ile)

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.1103C>T (p.Thr368Ile)

HGVS:

NC_000018.10:g.31082398G>A
NG_008208.2:g.25028C>T
NM_004949.5:c.1103C>T
NM_024422.6:c.1103C>TMANE SELECT
NP_004940.1:p.Thr368Ile
NP_077740.1:p.Thr368Ile
LRG_400:g.25028C>T
NC_000018.9:g.28662364G>A
NM_024422.3:c.1103C>T
NM_024422.4:c.1103C>T

Protein change:

T368I

Links:

dbSNP: rs538663626

NCBI 1000 Genomes Browser:

rs538663626

Molecular consequence:

NM_004949.5:c.1103C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_024422.6:c.1103C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000734936	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Uncertain significance (Oct 20, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000734936

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Uncertain significance
(Oct 20, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000734936.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

Description

The p.T368I variant (also known as c.1103C>T), located in coding exon 9 of the DSC2 gene, results from a C to T substitution at nucleotide position 1103. The threonine at codon 368 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is not well 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Feb 14, 2024

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