NM_000212.3(ITGB3):c.719G>A (p.Arg240Gln) AND Glanzmann thrombasthenia 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 25, 1992
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:: RCV000014512.29

Allele description [Variation Report for NM_000212.3(ITGB3):c.719G>A (p.Arg240Gln)]

NM_000212.3(ITGB3):c.719G>A (p.Arg240Gln)

Gene:

ITGB3:integrin subunit beta 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.32

Genomic location:

Preferred name:

NM_000212.3(ITGB3):c.719G>A (p.Arg240Gln)

Other names:

R214Q

HGVS:

NC_000017.11:g.47286364G>A
NG_008332.2:g.37523G>A
NM_000212.3:c.719G>AMANE SELECT
NP_000203.2:p.Arg240Gln
LRG_481t1:c.719G>A
LRG_481:g.37523G>A
NC_000017.10:g.45363730G>A
NM_000212.2(ITGB3):c.719G>A
NM_000212.2:c.719G>A
P05106:p.Arg240Gln

Protein change:

R240Q; ARG214GLN

Links:

UniProtKB: P05106#VAR_003999; OMIM: 173470.0001; dbSNP: rs121918444

NCBI 1000 Genomes Browser:

rs121918444

Molecular consequence:

NM_000212.3:c.719G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Glanzmann thrombasthenia 2
Synonyms:: BLEEDING DISORDER, PLATELET-TYPE, 23
Identifiers:: MONDO: MONDO:0031009; MedGen: C5543273; OMIM: 619267

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000034763	OMIM	no assertion criteria provided	Pathogenic (Feb 25, 1992)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000034763

OMIM

no assertion criteria provided

Pathogenic
(Feb 25, 1992)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A spontaneous mutation of integrin alpha IIb beta 3 (platelet glycoprotein IIb-IIIa) helps define a ligand binding site.

Bajt ML, Ginsberg MH, Frelinger AL 3rd, Berndt MC, Loftus JC.

J Biol Chem. 1992 Feb 25;267(6):3789-94.

PubMed [citation]

PMID:: 1371279

Details of each submission

From OMIM, SCV000034763.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a patient with Glanzmann thrombasthenia (GT2; 619267), Bajt et al. (1992) identified a G-to-A transition in the ITGB3 gene, resulting in an arg214-to-gln (R214Q) substitution. The patient's platelets failed to aggregate in response to stimuli. Bajt et al. (1992) concluded that the point mutation involved a putative ligand-binding domain of the beta-3 subunit.

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

Last Updated: Jun 23, 2024

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