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_000212.2(ITGB3):c.40G>A (p.Val14Met)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA8622831

235258 (ClinVar)

Gene: ITGB3

Condition: Glanzmann's thrombasthenia

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 8be7bf22-cde0-4d3e-b643-a4adf46f69a3

Approved on: 2020-06-04

Published on: 2021-01-28

HGVS expressions

NM_000212.2:c.40G>A

NM_000212.2(ITGB3):c.40G>A (p.Val14Met)

NM_000212.3:c.40G>A

ENST00000559488.5:c.40G>A

ENST00000560629.1:n.5G>A

ENST00000571680.1:c.40G>A

NC_000017.11:g.47253901G>A

CM000679.2:g.47253901G>A

NC_000017.10:g.45331267G>A

CM000679.1:g.45331267G>A

NC_000017.9:g.42686266G>A

NG_008332.2:g.5060G>A

Benign

BA1 BP4

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 c.40G>A; p.Val14Met missense variant has not been reported in the literature to our knowledge. It is present in an African population at an allele frequency of 0.03606. Computational evidence suggests no impact on the gene or gene product with a REVEL score of 0.115. In summary, this variant meets criteria to be classified as benign for GT. GT-specific criteria applied: BA1 and BP4.

BA1

The overall allele frequency in gnomAD is 0.003608 (377/104488 with 4 homozygotes) and the highest allele frequency is in the African population at 0.03606 (354/9816 with 4 homozygotes). This is above the >0.0024 threshold for BA1.

BP4

Computational evidence suggests no impact on the gene or gene product with a REVEL score of 0.115, below the <0.25 threshold.

Curation History

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