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NM_000213.5(ITGB4):c.5336T>C (p.Leu1779Pro) AND Junctional epidermolysis bullosa, non-Herlitz type

Germline classification:
Benign (1 submission)
Last evaluated:
Aug 19, 2021
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:
RCV001730602.2

Allele description [Variation Report for NM_000213.5(ITGB4):c.5336T>C (p.Leu1779Pro)]

NM_000213.5(ITGB4):c.5336T>C (p.Leu1779Pro)

Genes:
GALK1:galactokinase 1 [Gene - OMIM - HGNC]
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.5336T>C (p.Leu1779Pro)
HGVS:
  • NC_000017.11:g.75757422T>C
  • NG_007372.1:g.40988T>C
  • NG_008079.1:g.12778A>G
  • NM_000213.5:c.5336T>CMANE SELECT
  • NM_001005619.1:c.5285T>C
  • NM_001005731.3:c.5126T>C
  • NM_001321123.2:c.5126T>C
  • NP_000204.3:p.Leu1779Pro
  • NP_001005619.1:p.Leu1762Pro
  • NP_001005731.1:p.Leu1709Pro
  • NP_001308052.1:p.Leu1709Pro
  • NC_000017.10:g.73753503T>C
  • NM_000213.3:c.5336T>C
  • NM_001005731.1:c.5126T>C
  • P16144:p.Leu1779Pro
Protein change:
L1709P
Links:
UniProtKB: P16144#VAR_027804; dbSNP: rs871443
NCBI 1000 Genomes Browser:
rs871443
Molecular consequence:
  • NM_000213.5:c.5336T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005619.1:c.5285T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005731.3:c.5126T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321123.2:c.5126T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Junctional epidermolysis bullosa, non-Herlitz type
Synonyms:
EPIDERMOLYSIS BULLOSA JUNCTIONALIS, DISENTIS TYPE; EPIDERMOLYSIS BULLOSA JUNCTIONALIS, NON-HERLITZ TYPE; EPIDERMOLYSIS BULLOSA JUNCTIONALIS, PROGRESSIVE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009180; MedGen: C0268374; Orphanet: 251393; Orphanet: 79402; Orphanet: 79405; Orphanet: 89840; OMIM: 226650

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001980778Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Aug 19, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical 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 Genome-Nilou Lab, SCV001980778.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024