U.S. flag

An official website of the United States government

NM_000419.5(ITGA2B):c.798G>A (p.Trp266Ter) AND Glanzmann thrombasthenia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 15, 2022
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:
RCV002510782.1

Allele description [Variation Report for NM_000419.5(ITGA2B):c.798G>A (p.Trp266Ter)]

NM_000419.5(ITGA2B):c.798G>A (p.Trp266Ter)

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.798G>A (p.Trp266Ter)
Other names:
NM_000419.5(ITGA2B):c.798G>A; p.Trp266Ter
HGVS:
  • NC_000017.11:g.44384949C>T
  • NG_008331.1:g.9557G>A
  • NM_000419.5:c.798G>AMANE SELECT
  • NP_000410.2:p.Trp266Ter
  • LRG_479t1:c.798G>A
  • LRG_479:g.9557G>A
  • NC_000017.10:g.42462317C>T
  • NM_000419.3:c.798G>A
Protein change:
W266*
Links:
dbSNP: rs483352692
NCBI 1000 Genomes Browser:
rs483352692
Molecular consequence:
  • NM_000419.5:c.798G>A - 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

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002820926ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen
reviewed by expert panel

(ClinGen Platelet ACMG Specifications v2-1)
Likely pathogenic
(Nov 15, 2022)
germlinecuration

Citation Link

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, SCV002820926.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The NM_000419.5(ITGA2B):c.798G>A (p.Trp266Ter) variant in exon 7 is a nonsense variant predicted to cause a premature stop codon in biologically-relevant-exon 7 and is predicted to lead to nonsense mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1). This variant is reported in ClinVar, but no phenotype data are available (SCV000120031.1, SCV000155134.1). This variant is also absent from gnomAD v2.1.1 (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: PVS1, PM2_Supporting (VCEP specifications version 2.1).

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

Last Updated: Dec 9, 2023