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.2511G>C (p.Gln837His)

CA8602661

323545 (ClinVar)

Gene: ITGA2B

Condition: Glanzmann thrombasthenia

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 30381c7f-905f-4666-9898-4cec7195fb7d

Approved on: 2023-10-17

Published on: 2023-10-17

HGVS expressions

NM_000419.5:c.2511G>C

NM_000419.5(ITGA2B):c.2511G>C (p.Gln837His)

NC_000017.11:g.44375923C>G

CM000679.2:g.44375923C>G

NC_000017.10:g.42453291C>G

CM000679.1:g.42453291C>G

NC_000017.9:g.39808817C>G

NG_008331.1:g.18583G>C

ENST00000262407.6:c.2511G>C

ENST00000648408.1:c.1942G>C

ENST00000262407.5:c.2511G>C

ENST00000587295.5:c.163G>C

ENST00000592462.5:n.1306G>C

NM_000419.3:c.2511G>C

NM_000419.4:c.2511G>C

Benign

BA1 BP4

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 c.2511G>C variant in ITGA2B is a missense variant predicted to cause substitution of Glutamine by Histidine at amino acid 837 (p.Gln837His). The highest population minor allele frequency in gnomAD v2.1.1 is 0.01740 (530/30456 alleles) in the South Asian population, which is higher than the ClinGen PD VCEP threshold (>0.0024) for BA1, and therefore meets this criterion (BA1). The computational predictor REVEL gives a score of 0.197, which is below the ClinGen PD VCEP threshold of <0.25 and predicts no damaging effect on ITGA2B function (BP4). In summary, this variant meets the criteria to be classified as Benign for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: BA1 and BP4 (VCEP specifications version 2).

BA1

The highest population minor allele frequency in gnomAD v2.1.1 is 0.01740 (530/30456 alleles) in the South Asian population, which is higher than the ClinGen PD VCEP threshold (>0.0024) for BA1, and therefore meets this criterion (BA1).

BP4

The computational predictor REVEL gives a score of 0.197, which is below the ClinGen PD VCEP threshold of <0.25 and predicts no damaging effect on ITGA2B function (BP4).

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