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NM_004415.4(DSP):c.3388_3389insCTTCC (p.Asp1130fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 18, 2022
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:
RCV001823812.1

Allele description [Variation Report for NM_004415.4(DSP):c.3388_3389insCTTCC (p.Asp1130fs)]

NM_004415.4(DSP):c.3388_3389insCTTCC (p.Asp1130fs)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.3388_3389insCTTCC (p.Asp1130fs)
HGVS:
  • NC_000006.12:g.7579578_7579579insCTTCC
  • NG_008803.1:g.42942_42943insCTTCC
  • NM_001008844.3:c.3388_3389insCTTCC
  • NM_001319034.2:c.3388_3389insCTTCC
  • NM_004415.4:c.3388_3389insCTTCCMANE SELECT
  • NP_001008844.1:p.Asp1130fs
  • NP_001305963.1:p.Asp1130fs
  • NP_004406.2:p.Asp1130fs
  • LRG_423:g.42942_42943insCTTCC
  • NC_000006.11:g.7579811_7579812insCTTCC
Protein change:
D1130fs
Links:
dbSNP: rs2113691650
NCBI 1000 Genomes Browser:
rs2113691650
Molecular consequence:
  • NM_001008844.3:c.3388_3389insCTTCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001319034.2:c.3388_3389insCTTCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004415.4:c.3388_3389insCTTCC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002073412Phosphorus, Inc.
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 18, 2022) 		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

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 Phosphorus, Inc., SCV002073412.1

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

Description

This 5 bp insertion frameshift variant is located in exon 23 out of 24 exons of the DSP gene and results in a premature stop codon 31 amino acid residues downstream from codon 1130. This variant has not been reported in ClinVar and has not occurred in population databases. This position is conserved (GERP mean RS = 5.25). The variant has not occurred in the literature associated with the disease. Loss of function variants in this gene have been established as mechanism of disease. In conclusion, the available evidence is sufficient to classify this variant as Likely Pathogenic.

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

Last Updated: Dec 24, 2023