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NM_004415.4(DSP):c.3806G>A (p.Arg1269Gln) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 23, 2021
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:
RCV002485384.1

Allele description [Variation Report for NM_004415.4(DSP):c.3806G>A (p.Arg1269Gln)]

NM_004415.4(DSP):c.3806G>A (p.Arg1269Gln)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.3806G>A (p.Arg1269Gln)
HGVS:
  • NC_000006.12:g.7579996G>A
  • NG_008803.1:g.43360G>A
  • NM_001008844.3:c.3582+224G>A
  • NM_001319034.2:c.3806G>A
  • NM_004415.4:c.3806G>AMANE SELECT
  • NP_001305963.1:p.Arg1269Gln
  • NP_004406.2:p.Arg1269Gln
  • LRG_423t1:c.3806G>A
  • LRG_423:g.43360G>A
  • NC_000006.11:g.7580229G>A
  • NM_004415.2:c.3806G>A
Protein change:
R1269Q
Links:
dbSNP: rs876657795
NCBI 1000 Genomes Browser:
rs876657795
Molecular consequence:
  • NM_001008844.3:c.3582+224G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001319034.2:c.3806G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004415.4:c.3806G>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
Name:
Arrhythmogenic right ventricular dysplasia 8 (ARVD8)
Synonyms:
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; Arrhythmogenic right ventricular cardiomyopathy, type 8; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8
Identifiers:
MONDO: MONDO:0011831; MedGen: C1843896; OMIM: 607450
Name:
Lethal acantholytic epidermolysis bullosa (EBLA)
Identifiers:
MONDO: MONDO:0012323; MedGen: C1864826; Orphanet: 158687; OMIM: 609638
Name:
Woolly hair-skin fragility syndrome (WHSF)
Identifiers:
MONDO: MONDO:0957307; MedGen: C1843292; Orphanet: 293165; OMIM: 620415
Name:
Keratosis palmoplantaris striata 2
Synonyms:
KERATODERMA, PALMOPLANTAR, STRIATE FORM II; STRIATE PALMOPLANTAR KERATODERMA II; Keratosis palmoplantaris striata II
Identifiers:
MONDO: MONDO:0013034; MedGen: C1852127; OMIM: 612908
Name:
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Synonyms:
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis; Erythrokeratodermia-cardiomyopathy syndrome
Identifiers:
MONDO: MONDO:0014355; MedGen: C4014393; Orphanet: 476096; Orphanet: 65282; OMIM: 615821

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002788841Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Aug 23, 2021) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002788841.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024