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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 8, 2021
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:
RCV001580254.2

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
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
SCV001809898ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen
reviewed by expert panel

(ClinGen Platelet ACMG Specifications v2)		Pathogenic
(Jul 8, 2021) 		germlinecuration

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen, SCV001809898.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The NM_000212.2(ITGB3):c.719G>A (p.Arg240Gln) missense variant has been reported in at least four patients (PMIDs: 1371279, 29084015, 29675921, 30138987) with a phenotype highly specific to GT. This variant is absent from all population cohorts in gnomAD, ExAC, 1000 Genomes, and ESP and is predicted to have a deleterious effect (REVEL score 0.819). The functional impact has been assessed by transfection in CHO cells, showing normal αIIbβ3 surface expression with a deficiency in binding of fibrinogen and PAC-1 in response to mAb 62 stimulation (PMID: 1371279). In summary this variant meets criteria to be classified as Pathogenic for GT. GT-specific criteria applied: PS3, PM2_Supporting, PM3, PP3, and PP4_Moderate.

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

Last Updated: Jun 23, 2024