NM_024422.6(DSC2):c.2132T>A (p.Leu711Gln) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 2, 2022
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:: RCV002417813.2

Allele description [Variation Report for NM_024422.6(DSC2):c.2132T>A (p.Leu711Gln)]

NM_024422.6(DSC2):c.2132T>A (p.Leu711Gln)

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.2132T>A (p.Leu711Gln)

HGVS:

NC_000018.10:g.31070844A>T
NG_008208.2:g.36582T>A
NM_001406506.1:c.1703T>A
NM_001406507.1:c.1703T>A
NM_004949.5:c.2132T>A
NM_024422.6:c.2132T>AMANE SELECT
NP_001393435.1:p.Leu568Gln
NP_001393436.1:p.Leu568Gln
NP_004940.1:p.Leu711Gln
NP_004940.1:p.Leu711Gln
NP_077740.1:p.Leu711Gln
NP_077740.1:p.Leu711Gln
LRG_400t1:c.2132T>A
LRG_400t2:c.2132T>A
LRG_400:g.36582T>A
LRG_400p1:p.Leu711Gln
LRG_400p2:p.Leu711Gln
NC_000018.9:g.28650810A>T
NM_004949.3:c.2132T>A
NM_024422.3:c.2132T>A
NM_024422.5:c.2132T>A

Protein change:

L568Q

Molecular consequence:

NM_001406506.1:c.1703T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406507.1:c.1703T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004949.5:c.2132T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_024422.6:c.2132T>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002729033	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 2, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002729033

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 2, 2022)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002729033.2

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

Description

The p.L711Q variant (also known as c.2132T>A), located in coding exon 14 of the DSC2 gene, results from a T to A substitution at nucleotide position 2132. The leucine at codon 711 is replaced by glutamine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious 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	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

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