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NM_000213.5(ITGB4):c.2792G>A (p.Gly931Asp) AND Epidermolysis bullosa, junctional 5A, intermediate

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 2000
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV002051629.9

Allele description [Variation Report for NM_000213.5(ITGB4):c.2792G>A (p.Gly931Asp)]

NM_000213.5(ITGB4):c.2792G>A (p.Gly931Asp)

Gene:
ITGB4:integrin subunit beta 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.1
Genomic location:
Preferred name:
NM_000213.5(ITGB4):c.2792G>A (p.Gly931Asp)
HGVS:
  • NC_000017.11:g.75742591G>A
  • NG_007372.1:g.26157G>A
  • NM_000213.5:c.2792G>AMANE SELECT
  • NM_001005619.1:c.2792G>A
  • NM_001005731.3:c.2792G>A
  • NM_001321123.2:c.2792G>A
  • NP_000204.3:p.Gly931Asp
  • NP_001005619.1:p.Gly931Asp
  • NP_001005731.1:p.Gly931Asp
  • NP_001308052.1:p.Gly931Asp
  • NC_000017.10:g.73738672G>A
  • P16144:p.Gly931Asp
Protein change:
G931D; GLY931ASP
Links:
UniProtKB: P16144#VAR_011299; OMIM: 147557.0012; dbSNP: rs121912466
NCBI 1000 Genomes Browser:
rs121912466
Molecular consequence:
  • NM_000213.5:c.2792G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005619.1:c.2792G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005731.3:c.2792G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321123.2:c.2792G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Epidermolysis bullosa, junctional 5A, intermediate
Synonyms:
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, GENERALIZED INTERMEDIATE; EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, NON-HERLITZ TYPE
Identifiers:
MONDO: MONDO:0030768; MedGen: C5676956; OMIM: 619816

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000036128OMIM
no assertion criteria provided
Pathogenic
(May 1, 2000) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies Non-Herlitz junctional epidermolysis bullosa without pyloric atresia?

Inoue M, Tamai K, Shimizu H, Owaribe K, Nakama T, Hashimoto T, McGrath JA.

J Invest Dermatol. 2000 May;114(5):1061-4. No abstract available.

PubMed [citation]
PMID:
10792571

Details of each submission

From OMIM, SCV000036128.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 68-year-old male with typical non-Herlitz junctional epidermolysis bullosa (JEB5A; 619816) without pyloric atresia, Inoue et al. (2000) reported a homozygous ITGB4 gly931-to-asp (G931D) mutation. The patient, who was the product of a consanguineous mating, had a history of congenital blisters, recurrent urethral stenosis since age 12 years, progressive alopecia since childhood, loss of permanent dentition by age 30 years, nail dystrophy, and absence of pubic and axillary hair. There was no history of gastrointestinal symptoms or previous abdominal surgery. The mutation, a G-to-A transition at nucleotide 2792, created a novel BsmF1 cut site.

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

Last Updated: May 26, 2024