U.S. flag

An official website of the United States government

NM_000212.3(ITGB3):c.724C>T (p.Arg242Ter) AND Glanzmann thrombasthenia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 10, 2020
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:
RCV001290458.1

Allele description [Variation Report for NM_000212.3(ITGB3):c.724C>T (p.Arg242Ter)]

NM_000212.3(ITGB3):c.724C>T (p.Arg242Ter)

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.724C>T (p.Arg242Ter)
HGVS:
  • NC_000017.11:g.47286369C>T
  • NG_008332.2:g.37528C>T
  • NM_000212.3:c.724C>TMANE SELECT
  • NP_000203.2:p.Arg242Ter
  • LRG_481:g.37528C>T
  • NC_000017.10:g.45363735C>T
  • NC_000017.10:g.45363735C>T
Protein change:
R242*
Links:
dbSNP: rs758633284
NCBI 1000 Genomes Browser:
rs758633284
Molecular consequence:
  • NM_000212.3:c.724C>T - nonsense - [Sequence Ontology: SO:0001587]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001478492ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen
reviewed by expert panel

(ClinGen Platelet ACMG Specifications v2)		Pathogenic
(Nov 10, 2020) 		germlinecuration

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Natural history of platelet antibody formation against αIIbβ3 in a French cohort of Glanzmann thrombasthenia patients.

Fiore M, Firah N, Pillois X, Nurden P, Heilig R, Nurden AT.

Haemophilia. 2012 May;18(3):e201-9. doi: 10.1111/j.1365-2516.2011.02744.x. Epub 2012 Jan 18.

PubMed [citation]
PMID:
22250950

Details of each submission

From ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen, SCV001478492.2

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

Description

NM_000212.3(ITGB3):c.724C>T (p.Arg242Ter) is a stop-gain (nonsense) variant that has been reported previously in at least one proband who satisfies the diagnostic criteria for the GT phenotype (PMID: 22250950). MAF of this variant for the Non-Finnish European subpopulation is 0.000064 in gnomAD v2.1.1. This nonsense variant is predicted to cause NMD and loss of function. This variant meets GT specific criteria for PVS1, PM2_Supporting and PP4_moderate and is therefore classified as Pathogenic.

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

Last Updated: Sep 29, 2024