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_000419.4(ITGA2B):c.891+12del

CA8603299

323561 (ClinVar)

Gene: ITGA2B

Condition: Glanzmann's thrombasthenia

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 0e228f03-f000-4155-a74d-8b93303f8ad0

Approved on: 2019-07-19

Published on: 2021-01-28

HGVS expressions

NM_000419.4:c.891+12del

NM_000419.4(ITGA2B):c.891+12del

NC_000017.11:g.44384299del

CM000679.2:g.44384299del

NC_000017.10:g.42461667del

CM000679.1:g.42461667del

NC_000017.9:g.39817193del

NG_008331.1:g.10203del

NM_000419.3:c.891+8del

NM_000419.4:c.891+8del

NM_000419.5:c.891+8del

ENST00000262407.5:c.891+8del

ENST00000589645.5:n.342+8del

ENST00000591990.5:n.436+8del

ENST00000592075.5:n.260+8del

ENST00000592226.5:n.131+8del

ENST00000592253.5:n.399+8del

Benign

BP7 BA1

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.891+12del intronic variant has not been reported in the literature, to our knowledge. It is present in an African control population at an allele frequency of 0.01490 and no splice impact is predicted. In summary, this variant meets criteria to be classified as benign for GT. GT-specific criteria applied: BA1, BP7.

BP7

Splicing prediction algorithms HSF and MaxEntScan agree that there is no significant splicing motif alteration detected. This mutation probably has no impact on splicing.

BA1

This variant has an overall allele frequency in gnomAD of 0.001410 with an MAF of 0.01490 in the African population (359/24,102 alleles). This is above the threshold of 0.24%.

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