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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

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Assertion and evidence details

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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

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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, 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