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]

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

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"

PM2_Supporting PVS1

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).

PM2_Supporting

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

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).

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