NM_001943.5(DSG2):c.545A>G (p.Asn182Ser) AND Cardiovascular phenotype

Clinical significance:Uncertain significance (Last evaluated: Aug 27, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000620980.2

Allele description [Variation Report for NM_001943.5(DSG2):c.545A>G (p.Asn182Ser)]

NM_001943.5(DSG2):c.545A>G (p.Asn182Ser)

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.545A>G (p.Asn182Ser)
HGVS:
  • NC_000018.10:g.31522104A>G
  • NG_007072.3:g.28863A>G
  • NM_001943.5:c.545A>GMANE SELECT
  • NP_001934.2:p.Asn182Ser
  • LRG_397t1:c.545A>G
  • LRG_397:g.28863A>G
  • NC_000018.9:g.29102067A>G
  • NM_001943.3:c.545A>G
  • NM_001943.4:c.545A>G
  • c.545A>G
Protein change:
N182S
Links:
dbSNP: rs368512832
NCBI 1000 Genomes Browser:
rs368512832
Molecular consequence:
  • NM_001943.5:c.545A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000737989Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Aug 27, 2020)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.

Lopes LR, Zekavati A, Syrris P, Hubank M, Giambartolomei C, Dalageorgou C, Jenkins S, McKenna W; Uk10k Consortium., Plagnol V, Elliott PM.

J Med Genet. 2013 Apr;50(4):228-39. doi: 10.1136/jmedgenet-2012-101270. Epub 2013 Feb 8.

PubMed [citation]
PMID:
23396983
PMCID:
PMC3607113

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH.

Genet Med. 2014 Aug;16(8):601-8. doi: 10.1038/gim.2013.204. Epub 2014 Feb 6.

PubMed [citation]
PMID:
24503780
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV000737989.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (4)

Description

The p.N182S variant (also known as c.545A>G), located in coding exon 6 of the DSG2 gene, results from an A to G substitution at nucleotide position 545. The asparagine at codon 182 is replaced by serine, an amino acid with highly similar properties. This alteration has been detected in an individual from a hypertrophic cardiomyopathy cohort, and an individual with infantile dilated cardiomyopathy, both of whom also had variants in other cardiac-related genes (Lopes LR et al. J Med Genet. 2013;50:228-39; Pugh TJ et al. Genet Med. 2014;16:601-8). This amino acid position is poorly conserved in available vertebrate species, and serine is the reference amino acid in other 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
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 23, 2021

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