NM_004415.4(DSP):c.298C>T (p.Gln100Ter) AND Lethal acantholytic epidermolysis bullosa

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 6, 2024
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:: RCV004699140.1

Allele description [Variation Report for NM_004415.4(DSP):c.298C>T (p.Gln100Ter)]

NM_004415.4(DSP):c.298C>T (p.Gln100Ter)

Gene:

DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p24.3

Genomic location:

Preferred name:

NM_004415.4(DSP):c.298C>T (p.Gln100Ter)

HGVS:

NC_000006.12:g.7558140C>T
NG_008803.1:g.21504C>T
NM_001008844.3:c.298C>T
NM_001319034.2:c.298C>T
NM_001406591.1:c.298C>T
NM_004415.4:c.298C>TMANE SELECT
NP_001008844.1:p.Gln100Ter
NP_001305963.1:p.Gln100Ter
NP_001393520.1:p.Gln100Ter
NP_004406.2:p.Gln100Ter
NP_004406.2:p.Gln100Ter
LRG_423t1:c.298C>T
LRG_423:g.21504C>T
LRG_423p1:p.Gln100Ter
NC_000006.11:g.7558373C>T
NM_004415.2:c.298C>T

Protein change:

Q100*

Molecular consequence:

NM_001008844.3:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001319034.2:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406591.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_004415.4:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Lethal acantholytic epidermolysis bullosa (EBLA)
Identifiers:: MONDO: MONDO:0012323; MedGen: C1864826; Orphanet: 158687; OMIM: 609638

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004698200	Hadassah Hebrew University Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 6, 2024)	biparental	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004698200

Hadassah Hebrew University Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 6, 2024)

biparental

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Arab Muslim	biparental	yes	not provided	not provided	not provided	not provided	not provided	clinical 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 Hadassah Hebrew University Medical Center, SCV004698200.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Arab Muslim	not provided	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Sep 16, 2024

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