Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

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

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA229004

100811 (ClinVar)

Gene: ITGA2B

Condition: Glanzmann thrombasthenia

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: b854fbc8-44e9-4ff5-a662-d2d8caeacceb

Approved on: 2022-11-15

Published on: 2022-12-07

HGVS expressions

NM_000419.5:c.798G>A

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

NC_000017.11:g.44384949C>T

CM000679.2:g.44384949C>T

NC_000017.10:g.42462317C>T

CM000679.1:g.42462317C>T

NC_000017.9:g.39817843C>T

NG_008331.1:g.9557G>A

ENST00000262407.6:c.798G>A

ENST00000648408.1:n.229G>A

ENST00000262407.5:c.798G>A

ENST00000589645.5:n.249G>A

ENST00000591990.5:n.160G>A

ENST00000592075.5:n.167G>A

ENST00000592226.5:n.39+215G>A

ENST00000592253.5:n.306G>A

ENST00000592944.1:n.480G>A

NM_000419.3:c.798G>A

NM_000419.4:c.798G>A

Likely Pathogenic

The Expert Panel has overridden the computationally generated classification - "Uncertain Significance - Insufficient Evidence"

PVS1 PM2_Supporting

Evidence Links 0

Expert Panel

Platelet Disorders VCEP

Criteria Specification Information

Criteria Specification: ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2.1

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Platelet Disorders VCEP

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).

PVS1

The 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).

PM2_Supporting

This variant is absent from gnomAD v2.1.1 (PM2_Supporting).

Curation History

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.