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NM_000211.5(ITGB2):c.305_306del (p.Lys102fs) AND Leukocyte adhesion deficiency 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 20, 2019
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:
RCV001374421.1

Allele description [Variation Report for NM_000211.5(ITGB2):c.305_306del (p.Lys102fs)]

NM_000211.5(ITGB2):c.305_306del (p.Lys102fs)

Gene:
ITGB2:integrin subunit beta 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_000211.5(ITGB2):c.305_306del (p.Lys102fs)
HGVS:
  • NC_000021.9:g.44906940_44906941del
  • NG_007270.2:g.26901_26902del
  • NM_000211.5:c.305_306delMANE SELECT
  • NM_001127491.3:c.305_306del
  • NM_001303238.2:c.98_99del
  • NP_000202.3:p.Lys102fs
  • NP_001120963.2:p.Lys102fs
  • NP_001290167.1:p.Lys33fs
  • LRG_76:g.26901_26902del
  • NC_000021.8:g.46326855_46326856del
  • NM_000211.5:c.305_306delAAMANE SELECT
Protein change:
K102fs
Links:
dbSNP: rs2146538658
NCBI 1000 Genomes Browser:
rs2146538658
Molecular consequence:
  • NM_000211.5:c.305_306del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127491.3:c.305_306del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001303238.2:c.98_99del - frameshift variant - [Sequence Ontology: SO:0001589]
Functional consequence:
missing protein [Variation Ontology: 0240]
Observations:
1

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
SCV001558956Koker Lab, University of Erciyes Medical School
no assertion criteria provided
Pathogenic
(Mar 20, 2019) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Syriangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Koker Lab, University of Erciyes Medical School, SCV001558956.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Syrian1not providednot providedclinical testingnot provided

Description

We showed this variant on four Syrian related patients, all of them presented as LAD-1 and by flow cytometry loss of CD18 (encoded by ITGB2) is shown but even though the mutation is damage causing and certainly complete lack of integrin molecules ; unexpectedly Patient has pus formation and milder clinical phenotype. "Nezihe K. PUS FORMATION WITHIN LAD : AN UNCONVENTIONAL PRESENTATION OF A LAD TYPE I, Poster presented at ESID 2019 Annual Meeting, no:625 18-21 September 2019, Brussels"

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

Last Updated: Dec 24, 2023