NM_024422.6(DSC2):c.23G>T (p.Gly8Val) AND Cardiovascular phenotype

Germline classification:: Likely benign (1 submission)
Last evaluated:: Dec 21, 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:: RCV002444725.3

Allele description [Variation Report for NM_024422.6(DSC2):c.23G>T (p.Gly8Val)]

NM_024422.6(DSC2):c.23G>T (p.Gly8Val)

Genes:

DSCAS:DSC1/DSC2 antisense RNA [Gene - HGNC]
DSC2:desmocollin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q12.1

Genomic location:

Preferred name:

NM_024422.6(DSC2):c.23G>T (p.Gly8Val)

Other names:

p.G8V:GGC>GTC; p.Gly8Val

HGVS:

NC_000018.10:g.31101949C>A
NG_008208.2:g.5477G>T
NM_004949.5:c.23G>T
NM_024422.6:c.23G>TMANE SELECT
NP_004940.1:p.Gly8Val
NP_077740.1:p.Gly8Val
LRG_400:g.5477G>T
NC_000018.9:g.28681912C>A
NM_024422.3:c.23G>T
NM_024422.4:c.23G>T

Protein change:

G8V

Links:

dbSNP: rs794728063

NCBI 1000 Genomes Browser:

rs794728063

Molecular consequence:

NM_004949.5:c.23G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_024422.6:c.23G>T - 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
SCV002732563	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Dec 21, 2022)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 24704780, 29970176, 30847666, 32009526, 35470680 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002732563

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Dec 21, 2022)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

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

Citations

PubMed

Truncating plakophilin-2 mutations in arrhythmogenic cardiomyopathy are associated with protein haploinsufficiency in both myocardium and epidermis.

Rasmussen TB, Nissen PH, Palmfeldt J, Gehmlich K, Dalager S, Jensen UB, Kim WY, Heickendorff L, Mølgaard H, Jensen HK, Baandrup UT, Bross P, Mogensen J.

Circ Cardiovasc Genet. 2014 Jun;7(3):230-40. doi: 10.1161/CIRCGENETICS.113.000338. Epub 2014 Apr 4.

PubMed [citation]

PMID:: 24704780

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP, Macias A, Piechota M, Korostyński M, Potulska-Chromik A, Redowicz MJ, Zekanowski C.

Hum Genomics. 2018 Jul 3;12(1):34. doi: 10.1186/s40246-018-0167-1.

PubMed [citation]

PMID:: 29970176
PMCID:: PMC6029161

See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV002732563.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	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: Sep 29, 2024

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