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.3099A>T (p.Glu1033Asp)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA290942825

627299 (ClinVar)

Gene: ITGA2B

Condition: Glanzmann's thrombasthenia

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 7338d3f7-38e1-488b-96ac-85ea02ef23a6

Approved on: 2020-06-04

Published on: 2021-01-23

HGVS expressions

NM_000419.5:c.3099A>T

NM_000419.5(ITGA2B):c.3099A>T (p.Glu1033Asp)

NC_000017.11:g.44372385T>A

CM000679.2:g.44372385T>A

NC_000017.10:g.42449753T>A

CM000679.1:g.42449753T>A

NC_000017.9:g.39805279T>A

NG_008331.1:g.22121A>T

ENST00000262407.6:c.3099A>T

ENST00000648408.1:c.2413A>T

ENST00000262407.5:c.3099A>T

ENST00000587295.5:c.292A>T

ENST00000588098.1:c.76A>T

NM_000419.3:c.3099A>T

NM_000419.4:c.3099A>T

Uncertain Significance

PM2_Supporting BP4

PP4 PM3

Evidence Links 0

Expert Panel

Platelet Disorders VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Platelet Disorders VCEP

The missense variant c.3099A>T (p.Glu1033Asp) has been reported heterozygous in one patient (PMID: 31064749) however a second variant was not identified. It is absent from population databases including gnomAD, ExAC, 1000 Genomes, and ESP. Computational predictors agree that this variant does not have a deleterious effect (REVEL score of 0.193). In summary, this variant meets criteria to be classified as uncertain significance for GT. GT-specific criteria applied: PM2_supporting, BP4.

PM2_Supporting

Glu1033Asp is absent from population databases including gnomAD, ExAC, 1000 Genomes, and ESP.

BP4

Computational predictors agree that this variant does not have a deleterious effect with a REVEL score of 0.193 (below the <0.25 threshold).

PP4

In PMID: 31064749 patient TGP0212 (heterozygous for this variant) is noted to have a disease of platelet function but no further information is provided.

PM3

One GT patient has been reported in ClinVar, by NIHR Bioresource Rare Diseases, heterozygous for this variant however the second variant was not indicated (believed to be patient TGP0212 from PMID: 31064749).

Curation History

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