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NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln) AND multiple conditions

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 28, 2024
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:
RCV000459782.11

Allele description [Variation Report for NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln)]

NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln)
Other names:
p.K1288Q:AAG>CAG
HGVS:
  • NC_000006.12:g.7580052A>C
  • NG_008803.1:g.43416A>C
  • NM_001008844.3:c.3582+280A>C
  • NM_001319034.2:c.3862A>C
  • NM_004415.4:c.3862A>CMANE SELECT
  • NP_001305963.1:p.Lys1288Gln
  • NP_004406.2:p.Lys1288Gln
  • LRG_423t1:c.3862A>C
  • LRG_423:g.43416A>C
  • NC_000006.11:g.7580285A>C
  • NM_004415.2:c.3862A>C
  • NM_004415.3:c.3862A>C
Protein change:
K1288Q
Links:
dbSNP: rs138907450
NCBI 1000 Genomes Browser:
rs138907450
Molecular consequence:
  • NM_001008844.3:c.3582+280A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001319034.2:c.3862A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004415.4:c.3862A>C - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000543227Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Benign
(Jan 28, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000543227.10

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

Last Updated: Mar 16, 2024