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NM_004415.4(DSP):c.8576_8577del (p.Ser2859fs) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 17, 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:
RCV000156294.4

Allele description [Variation Report for NM_004415.4(DSP):c.8576_8577del (p.Ser2859fs)]

NM_004415.4(DSP):c.8576_8577del (p.Ser2859fs)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.8576_8577del (p.Ser2859fs)
HGVS:
  • NC_000006.11:g.7586071_7586072del
  • NC_000006.12:g.7585836CT[1]
  • NG_008803.1:g.49200CT[1]
  • NM_001008844.3:c.6779_6780del
  • NM_001319034.2:c.7247_7248del
  • NM_004415.4:c.8576_8577delMANE SELECT
  • NP_001008844.1:p.Ser2260fs
  • NP_001305963.1:p.Ser2416fs
  • NP_004406.2:p.Ser2859fs
  • LRG_423t1:c.8576_8577del
  • LRG_423:g.49200CT[1]
  • NC_000006.11:g.7586069CT[1]
  • NC_000006.11:g.7586071_7586072del
  • NC_000006.11:g.7586071_7586072delCT
  • NM_004415.2:c.8576_8577delCT
  • p.Ser2859LeufsX6
Protein change:
S2260fs
Links:
dbSNP: rs727504909
NCBI 1000 Genomes Browser:
rs727504909
Molecular consequence:
  • NM_001008844.3:c.6779_6780del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001319034.2:c.7247_7248del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004415.4:c.8576_8577del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000206012Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Feb 17, 2014) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa.

Jonkman MF, Pasmooij AM, Pasmans SG, van den Berg MP, Ter Horst HJ, Timmer A, Pas HH.

Am J Hum Genet. 2005 Oct;77(4):653-60. Epub 2005 Aug 17.

PubMed [citation]
PMID:
16175511
PMCID:
PMC1275614

Molecular abnormalities of the desmosomal protein desmoplakin in human disease.

Lai Cheong JE, Wessagowit V, McGrath JA.

Clin Exp Dermatol. 2005 May;30(3):261-6. Review.

PubMed [citation]
PMID:
15807686
See all PubMed Citations (4)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000206012.4

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

Description

Variant classified as Uncertain Significance - Favor Pathogenic. The Ser2859fs v ariant in DSP has not been reported in individuals with cardiomyopathy or in lar ge population studies. This frameshift variant is predicted to alter the protein ?s amino acid sequence beginning at position 2859 and leads to a premature termi nation codon 6 amino acids downstream, resulting in a loss of the last 6 amino a cids of the DSP protein and may not. It is unclear if this variant would undergo nonsense mediated decay and cause a loss of function variant. However, homozygo us variants that truncate the tail of the DSP protein have been reported in indi viduals with Carvajal syndrome and/or acantholytic epidermolysis bullosa (Cheong 2005, Jonkman 2005, Rasmussen 2013). Although this data supports that the Ser28 59fs variant may be pathogenic in homozygous configuration, additional studies a re needed to fully assess its clinical significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Jun 2, 2024