NM_004415.4(DSP):c.7899dup (p.Thr2634fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 26, 2023
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:: RCV000494013.4

Allele description [Variation Report for NM_004415.4(DSP):c.7899dup (p.Thr2634fs)]

NM_004415.4(DSP):c.7899dup (p.Thr2634fs)

Gene:

DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

6p24.3

Genomic location:

Preferred name:

NM_004415.4(DSP):c.7899dup (p.Thr2634fs)

HGVS:

NC_000006.12:g.7585161dup
NG_008803.1:g.48525dup
NM_001008844.3:c.6102dup
NM_001319034.2:c.6570dup
NM_004415.2:c.7899dup
NM_004415.4:c.7899dupMANE SELECT
NP_001008844.1:p.Thr2035fs
NP_001305963.1:p.Thr2191fs
NP_004406.2:p.Thr2634fs
LRG_423t1:c.7899dup
LRG_423:g.48525dup
NC_000006.11:g.7585394dup
NM_004415.2:c.7899dupT

Protein change:

T2035fs

Links:

dbSNP: rs1131691561

NCBI 1000 Genomes Browser:

rs1131691561

Molecular consequence:

NM_001008844.3:c.6102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001319034.2:c.6570dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004415.4:c.7899dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000582384	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Jan 26, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000582384

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Jan 26, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000582384.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 2, 2024

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