U.S. flag

An official website of the United States government

NM_004415.4(DSP):c.3788_3789dup (p.Thr1264fs) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 22, 2017
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:
RCV000599270.1

Allele description [Variation Report for NM_004415.4(DSP):c.3788_3789dup (p.Thr1264fs)]

NM_004415.4(DSP):c.3788_3789dup (p.Thr1264fs)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.3788_3789dup (p.Thr1264fs)
HGVS:
  • NC_000006.12:g.7579978_7579979dup
  • NG_008803.1:g.43342_43343dup
  • NM_001008844.3:c.3582+206_3582+207dup
  • NM_001319034.2:c.3788_3789dup
  • NM_004415.4:c.3788_3789dupMANE SELECT
  • NP_001305963.1:p.Thr1264fs
  • NP_004406.2:p.Thr1264fs
  • LRG_423t1:c.3788_3789dup
  • LRG_423:g.43342_43343dup
  • NC_000006.11:g.7580211_7580212dup
  • NM_004415.2:c.3788_3789dupCC
Protein change:
T1264fs
Links:
dbSNP: rs1554108170
NCBI 1000 Genomes Browser:
rs1554108170
Molecular consequence:
  • NM_001319034.2:c.3788_3789dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004415.4:c.3788_3789dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001008844.3:c.3582+206_3582+207dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000710246GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Dec 22, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000710246.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Although the c.3788_3789dupCC likely pathogenic variant in the DSP gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon threonine 1264, changing it to a proline, and creating a premature stop codon at position 22 of the new reading frame, denoted p.Thr1264ProfsX22. This likely pathogenic variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift variants in the DSP gene have been reported in Human Gene Mutation Database in association with DSP-related disorders (Stenson et al., 2014), indicating that loss of function is a mechanism of disease for this gene. Furthermore, the c.3788_3789dupCC variant has not been observed in large population cohorts (Lek et al., 2016).

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

Last Updated: Nov 5, 2022