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NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) AND Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Germline classification:
Benign (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000987654.1

Allele description [Variation Report for NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln)]

NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln)
Other names:
p.R2639Q:CGG>CAG
HGVS:
  • NC_000006.12:g.7585178G>A
  • NG_008803.1:g.48542G>A
  • NM_001008844.3:c.6119G>A
  • NM_001319034.2:c.6587G>A
  • NM_004415.4:c.7916G>AMANE SELECT
  • NP_001008844.1:p.Arg2040Gln
  • NP_001305963.1:p.Arg2196Gln
  • NP_004406.2:p.Arg2639Gln
  • LRG_423t1:c.7916G>A
  • LRG_423:g.48542G>A
  • NC_000006.11:g.7585411G>A
  • NM_004415.2:c.7916G>A
  • NM_004415.3:c.7916G>A
Protein change:
R2040Q
Links:
dbSNP: rs116888866
NCBI 1000 Genomes Browser:
rs116888866
Molecular consequence:
  • NM_001008844.3:c.6119G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001319034.2:c.6587G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004415.4:c.7916G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Synonyms:
Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair; Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy; Dilated cardiomyopathy with woolly hair and keratoderma; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011581; MedGen: C1854063; Orphanet: 65282; OMIM: 605676

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001137054Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Benign
(May 28, 2019) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001137054.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024