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.1544G>A (p.Arg515Gln)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA123241

13561 (ClinVar)

Gene: ITGB3

Condition: Glanzmann's thrombasthenia

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: f8ea8df0-2867-4351-8d44-52a3d6cf1b73

Approved on: 2021-05-07

Published on: 2021-08-20

HGVS expressions

NM_000212.2:c.1544G>A

NM_000212.2(ITGB3):c.1544G>A (p.Arg515Gln)

NC_000017.11:g.47292422G>A

CM000679.2:g.47292422G>A

NC_000017.10:g.45369788G>A

CM000679.1:g.45369788G>A

NC_000017.9:g.42724787G>A

NG_008332.2:g.43581G>A

ENST00000559488.7:c.1544G>A

ENST00000559488.5:c.1544G>A

ENST00000560629.1:n.1509G>A

NM_000212.3:c.1544G>A

Benign

BP4 BA1

BS2

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 NM_000212.3(ITGB3):c.1544G>A (p.Arg515Gln) missense variant occurs at an allele frequency of 0.02211 in the gnomAD East Asian population and is predicted, by REVEL score of 0.183, to have no impact on the gene or gene product. This variant has been reported in the literature multiple times (including PMIDs: 7694683 and 8457479) as the alloantigenic site HPA-6 (formerly known as Ca/Tu). In summary, the variant is classified as benign for GT. GT-specific criteria applied: BA1 and BP4.

BP4

Computational evidence suggests no impact on the gene or gene product with a REVEL score of 0.183, below the <0.25 threshold.

BA1

The overall allele frequency in gnomAD is 0.00273 with a MAF of 0.02211 (441/19950 alleles) in the East Asian population. This is above the threshold of >0.0024.

BS2

Three homozygous individuals are reported in gnomAD, however phenotypic information is not available and no homozygotes are described in the literature.

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.