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NM_000212.3(ITGB3):c.740G>A (p.Gly247Asp) AND Glanzmann thrombasthenia 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 2010
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:
RCV000014537.31

Allele description [Variation Report for NM_000212.3(ITGB3):c.740G>A (p.Gly247Asp)]

NM_000212.3(ITGB3):c.740G>A (p.Gly247Asp)

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.740G>A (p.Gly247Asp)
Other names:
G221D
HGVS:
  • NC_000017.11:g.47286385G>A
  • NG_008332.2:g.37544G>A
  • NM_000212.3:c.740G>AMANE SELECT
  • NP_000203.2:p.Gly247Asp
  • LRG_481:g.37544G>A
  • NC_000017.10:g.45363751G>A
  • NM_000212.2(ITGB3):c.740G>A
  • P05106:p.Gly247Asp
Protein change:
G247D; GLY221ASP
Links:
UniProtKB: P05106#VAR_069922; OMIM: 173470.0017; dbSNP: rs79560904
NCBI 1000 Genomes Browser:
rs79560904
Molecular consequence:
  • NM_000212.3:c.740G>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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000034788OMIM
no assertion criteria provided
Pathogenic
(Mar 1, 2010) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.

Jallu V, Dusseaux M, Panzer S, Torchet MF, Hezard N, Goudemand J, de Brevern AG, Kaplan C.

Hum Mutat. 2010 Mar;31(3):237-46. doi: 10.1002/humu.21179.

PubMed [citation]
PMID:
20020534

Details of each submission

From OMIM, SCV000034788.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient with Glanzmann thrombasthenia (GT2; 619267), Jallu et al. (2010) identified compound heterozygosity for 2 mutations in the ITGB3 gene: a 740G-A transition in exon 5, resulting in a gly221-to-asp (G221D) substitution in the mature protein, and K253M (173470.0016). Both mutations are located in the beta-I domain. Flow cytometric studies of the mutant protein expressed in COS-7 cells showed that the mutation prevented normal GPIIb/IIIa complex expression on the cell surface consistent with a severe type 1 phenotype. However, specific antibodies detected some residual expression of the IIIa protein. Jallu et al. (2010) postulated that the mutation interferes with correct folding of the protein.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024