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NM_000213.5(ITGB4):c.690T>A (p.Asp230Glu) AND Junctional epidermolysis bullosa with pyloric atresia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 12, 2018
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:
RCV001124986.4

Allele description [Variation Report for NM_000213.5(ITGB4):c.690T>A (p.Asp230Glu)]

NM_000213.5(ITGB4):c.690T>A (p.Asp230Glu)

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.690T>A (p.Asp230Glu)
HGVS:
  • NC_000017.11:g.75729388T>A
  • NG_007372.1:g.12954T>A
  • NM_000213.5:c.690T>AMANE SELECT
  • NM_001005619.1:c.690T>A
  • NM_001005731.3:c.690T>A
  • NM_001321123.2:c.690T>A
  • NP_000204.3:p.Asp230Glu
  • NP_001005619.1:p.Asp230Glu
  • NP_001005731.1:p.Asp230Glu
  • NP_001308052.1:p.Asp230Glu
  • NC_000017.10:g.73725469T>A
  • NM_001005731.1:c.690T>A
Protein change:
D230E
Links:
dbSNP: rs2060802259
NCBI 1000 Genomes Browser:
rs2060802259
Molecular consequence:
  • NM_000213.5:c.690T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005619.1:c.690T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005731.3:c.690T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321123.2:c.690T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Junctional epidermolysis bullosa with pyloric atresia
Synonyms:
EB-PA-ACC; Epidermolysis bullosa with pyloric atresia; Carmi syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009183; MedGen: C5676875; Orphanet: 79403; OMIM: 226730

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001284013Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Uncertain significance
(Jan 12, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001284013.1

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

Description

This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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

Last Updated: Aug 5, 2023