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NM_000211.5(ITGB2):c.576dup (p.Asn193fs) AND Leukocyte adhesion deficiency 1

Germline classification:
Pathogenic (1 submission)
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:
RCV000087120.3

Allele description [Variation Report for NM_000211.5(ITGB2):c.576dup (p.Asn193fs)]

NM_000211.5(ITGB2):c.576dup (p.Asn193fs)

Gene:
ITGB2:integrin subunit beta 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_000211.5(ITGB2):c.576dup (p.Asn193fs)
Other names:
N193QfsX72
HGVS:
  • NC_000021.9:g.44901660dup
  • NG_007270.2:g.32182dup
  • NM_000211.5:c.576dupMANE SELECT
  • NM_001127491.3:c.576dup
  • NM_001303238.2:c.369dup
  • NP_000202.3:p.Asn193fs
  • NP_001120963.2:p.Asn193fs
  • NP_001290167.1:p.Asn124fs
  • LRG_76t1:c.576dup
  • LRG_76:g.32182dup
  • NC_000021.8:g.46321575dup
  • NM_000211.3:c.576dupC
  • NM_000211.4:c.576dupC
Protein change:
N124fs
Links:
dbSNP: rs483352813
NCBI 1000 Genomes Browser:
rs483352813
Molecular consequence:
  • NM_000211.5:c.576dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127491.3:c.576dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001303238.2:c.369dup - frameshift variant - [Sequence Ontology: SO:0001589]
Functional consequence:
variation affecting protein function [Variation Ontology: 0003]

Condition(s)

Name:
Leukocyte adhesion deficiency 1 (LAD1)
Synonyms:
LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD 1; Lymphocyte function-associated antigen 1 immunodeficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007293; MedGen: C0398738; Orphanet: 2968; Orphanet: 99842; OMIM: 116920

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000119981Genomic Research Center, Shahid Beheshti University of Medical Sciences - Mutation spectra of the ITGB2 gene in Iranian families with leukocyte adhesion deficiency type 1
no assertion criteria provided
pathogenicinheritednot provided

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Genomic Research Center, Shahid Beheshti University of Medical Sciences - Mutation spectra of the ITGB2 gene in Iranian families with leukocyte adhesion deficiency type 1, SCV000119981.1

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

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Jan 26, 2024