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NM_004415.4(DSP):c.6188G>A (p.Arg2063Gln) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 7, 2014
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:
RCV000181338.1

Allele description [Variation Report for NM_004415.4(DSP):c.6188G>A (p.Arg2063Gln)]

NM_004415.4(DSP):c.6188G>A (p.Arg2063Gln)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.6188G>A (p.Arg2063Gln)
Other names:
p.R2063Q:CGG>CAG
HGVS:
  • NC_000006.12:g.7583450G>A
  • NG_008803.1:g.46814G>A
  • NM_001008844.3:c.4391G>A
  • NM_001319034.2:c.4859G>A
  • NM_004415.4:c.6188G>AMANE SELECT
  • NP_001008844.1:p.Arg1464Gln
  • NP_001305963.1:p.Arg1620Gln
  • NP_004406.2:p.Arg2063Gln
  • LRG_423t1:c.6188G>A
  • LRG_423:g.46814G>A
  • NC_000006.11:g.7583683G>A
  • NM_004415.2:c.6188G>A
Protein change:
R1464Q
Links:
dbSNP: rs142927608
NCBI 1000 Genomes Browser:
rs142927608
Molecular consequence:
  • NM_001008844.3:c.4391G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001319034.2:c.4859G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004415.4:c.6188G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000233635GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Apr 7, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000233635.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

p.Arg2063Gln (CGG>CAG): c.6188 G>A in exon 24 of the DSP gene (NM_004415.2). The R2063Q variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The R2063Q variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The R2063Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is possibly damaging to the protein structure/function. Nevertheless, only one additional missense mutation in a nearby residue (G2056R) has been reported in association with ARVC. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in CARDIOMYOPATHY panel(s).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024