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NM_000419.5(ITGA2B):c.3115_3119dup (p.Ter1040TrpextTer?) AND Glanzmann thrombasthenia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 15, 2023
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV001225227.4

Allele description [Variation Report for NM_000419.5(ITGA2B):c.3115_3119dup (p.Ter1040TrpextTer?)]

NM_000419.5(ITGA2B):c.3115_3119dup (p.Ter1040TrpextTer?)

Gene:
ITGA2B:integrin subunit alpha 2b [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_000419.5(ITGA2B):c.3115_3119dup (p.Ter1040TrpextTer?)
HGVS:
  • NC_000017.11:g.44372366_44372370dup
  • NG_008331.1:g.22137_22141dup
  • NM_000419.5:c.3115_3119dupMANE SELECT
  • NP_000410.2:p.Ter1040TrpextTer?
  • LRG_479:g.22137_22141dup
  • NC_000017.10:g.42449734_42449738dup
  • NM_000419.4:c.3115_3119dup
Links:
dbSNP: rs2048504402
NCBI 1000 Genomes Browser:
rs2048504402
Molecular consequence:
  • NM_000419.5:c.3115_3119dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_000419.5:c.3115_3119dup - stop lost - [Sequence Ontology: SO:0001578]

Condition(s)

Name:
Glanzmann thrombasthenia
Synonyms:
PLATELET GLYCOPROTEIN IIb-IIIa DEFICIENCY; Thrombasthenia of Glanzmann and Naegeli; Glanzmann thrombasthenia type A; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0100326; MedGen: C0040015; Orphanet: 849; OMIM: PS273800

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001397473ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen
reviewed by expert panel

(ClinGen Platelet ACMG Specifications v2-1)		Likely pathogenic
(Aug 15, 2023) 		germlinecuration

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia.

Kannan M, Ahmad F, Yadav BK, Kumar R, Choudhry VP, Saxena R.

J Thromb Haemost. 2009 Nov;7(11):1878-85. doi: 10.1111/j.1538-7836.2009.03579.x. Epub 2009 Aug 19.

PubMed [citation]
PMID:
19691478

Details of each submission

From ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen, SCV001397473.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

The stop loss NM_000419.5(ITGA2B):c.3115_3119dup variant causes Ter1040Trp and extension of the protein by 92 amino acids (PM4). It has been observed in the homozygous state in one patient with a phenotype highly specific to GT, including mucocutaneous bleeding, impaired aggregation with all agonists except ristocetin, and <5% surface expression of αIIbβ3 measured by flow cytometry (PMID: 19691478; PP4_moderate, PM3_supporting). This variant is absent from gnomADv2.1.1 (PM2_Supporting). In summary, this variant meets the criteria to be classified as likely pathogenic for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: PM2_supporting, PM4, PP4_moderate, PM3_supporting (PD VCEP specifications version 2.1).

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

Last Updated: Jun 23, 2024