NM_004415.4(DSP):c.3733del (p.Glu1245fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 6, 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:: RCV000181365.4

Allele description [Variation Report for NM_004415.4(DSP):c.3733del (p.Glu1245fs)]

NM_004415.4(DSP):c.3733del (p.Glu1245fs)

Gene:

DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6p24.3

Genomic location:

Preferred name:

NM_004415.4(DSP):c.3733del (p.Glu1245fs)

HGVS:

NC_000006.12:g.7579923del
NG_008803.1:g.43287del
NM_001008844.3:c.3582+151del
NM_001319034.2:c.3733del
NM_004415.4:c.3733delMANE SELECT
NP_001305963.1:p.Glu1245fs
NP_004406.2:p.Glu1245fs
LRG_423t1:c.3733del
LRG_423:g.43287del
NC_000006.11:g.7580154del
NC_000006.11:g.7580156del
NM_004415.2:c.3733del
NM_004415.2:c.3733delG
p.E1245KfsX5

Protein change:

E1245fs

Links:

dbSNP: rs794728142

NCBI 1000 Genomes Browser:

rs794728142

Molecular consequence:

NM_001319034.2:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004415.4:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001008844.3:c.3582+151del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000233666	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Jun 6, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000233666

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Jun 6, 2022)

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, SCV000233666.15

#	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: Sep 29, 2024

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