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.1960G>A (p.Glu654Lys)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA8623406

225395 (ClinVar)

Gene: ITGB3

Condition: Glanzmann's thrombasthenia

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 46ae73f6-57c9-49fe-9bfc-34734427d618

Approved on: 2019-09-18

Published on: 2021-01-23

HGVS expressions

NM_000212.2:c.1960G>A

NM_000212.2(ITGB3):c.1960G>A (p.Glu654Lys)

NC_000017.11:g.47300524G>A

CM000679.2:g.47300524G>A

NC_000017.10:g.45377890G>A

CM000679.1:g.45377890G>A

NC_000017.9:g.42732889G>A

NG_008332.2:g.51683G>A

NM_000212.3:c.1960G>A

ENST00000559488.5:c.1960G>A

ENST00000560629.1:n.1925G>A

Benign

BA1

PP3

Evidence Links 0

Expert Panel

Platelet Disorders VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Platelet Disorders VCEP

This missense, c.1960G>A (p.Glu654Lys) variant occurs at an overall allele frequency in gnomAD of 0.0006917 with a MAF of 0.0005056 (138/19954 alleles, including 1 homozygote) in the East Asian population. Computational evidence does not support a deleterious effect on the gene/gene product. This variant meets criteria to be classified as Benign by the ClinGen Platelet Disorders VCEP. GT-specific criteria met: BA1.

BA1

This variant occurs at an overall allele frequency in gnomAD of 0.0006917 with a MAF of 0.0005056 (138/19954 alleles, including 1 homozygote) in the East Asian population.

PP3

SIFT (Tolerated), MutationTaster (Polymorphism) and Polyphen (Benign) do not support a deleterious effect of this variant. REVEL score is 0.289. This information is included here as BP4 is not used.

Curation History

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