NM_000211.5(ITGB2):c.1143del (p.Tyr382fs) 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:: RCV000087109.3

Allele description [Variation Report for NM_000211.5(ITGB2):c.1143del (p.Tyr382fs)]

NM_000211.5(ITGB2):c.1143del (p.Tyr382fs)

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.1143del (p.Tyr382fs)

HGVS:

NC_000021.9:g.44893486del
NG_007270.2:g.40354del
NM_000211.5:c.1143delMANE SELECT
NM_001127491.3:c.1143del
NM_001303238.2:c.936del
NP_000202.3:p.Tyr382fs
NP_001120963.2:p.Tyr382fs
NP_001290167.1:p.Tyr313fs
LRG_76t1:c.1143del
LRG_76:g.40354del
NC_000021.8:g.46313401del
NM_000211.3:c.1143delC
p.(Tyr382Thrfs*9)

Protein change:

Y313fs

Links:

dbSNP: rs483352817

NCBI 1000 Genomes Browser:

rs483352817

Molecular consequence:

NM_000211.5:c.1143del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127491.3:c.1143del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001303238.2:c.936del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000119970	Genomic 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	pathogenic	inherited	not provided

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000119970

Genomic 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

pathogenic

inherited

not provided

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	inherited	not provided	not provided	not provided	not provided	1	not provided	literature 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, SCV000119970.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	not provided

Description

Converted during submission to Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 5, 2023

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