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NM_000419.5(ITGA2B):c.2870C>T (p.Ser957Leu) AND Glanzmann thrombasthenia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 16, 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:
RCV000003036.9

Allele description [Variation Report for NM_000419.5(ITGA2B):c.2870C>T (p.Ser957Leu)]

NM_000419.5(ITGA2B):c.2870C>T (p.Ser957Leu)

Gene:
ITGA2B:integrin subunit alpha 2b [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_000419.5(ITGA2B):c.2870C>T (p.Ser957Leu)
Other names:
S926L
HGVS:
  • NC_000017.11:g.44374732G>A
  • NG_008331.1:g.19774C>T
  • NM_000419.5:c.2870C>TMANE SELECT
  • NP_000410.2:p.Ser957Leu
  • LRG_479t1:c.2870C>T
  • LRG_479:g.19774C>T
  • LRG_479p1:p.Ser957Leu
  • NC_000017.10:g.42452100G>A
  • NM_000419.4(ITGA2B):c.2870C>T
  • P08514:p.Ser957Leu
Protein change:
S957L; SER926LEU
Links:
UniProtKB: P08514#VAR_069918; OMIM: 607759.0015; dbSNP: rs80002943
NCBI 1000 Genomes Browser:
rs80002943
Molecular consequence:
  • NM_000419.5:c.2870C>T - missense variant - [Sequence Ontology: SO:0001583]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001397553ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen
reviewed by expert panel

(ClinGen Platelet ACMG Specifications v2-1)		Uncertain significance
(Mar 16, 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

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 ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen, SCV001397553.4

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

Description

The c.2870C>T; p.Ser957Leu variant has been reported, in the homozygous state, in at least one proband (PMID: 20020534). It is absent from population databases ExAC and gnomAD. The Ser957Leu mutant complex was expressed in COS-7 cells and, in three replicates, expression of the complex (% positive cells) was assessed by flow cytometry, using antibodies to alpha-IIb, beta-3 or the complex, finding approximately 19% positive cells for the αIIbβ3 complex compared to WT. In summary, this variant meets criteria to be classified as uncertain significance for GT. GT-specific criteria applied: PS3_supporting, PM2_Supporting and PM3_Supporting.

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

Last Updated: Aug 18, 2024