The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

  • See Evidence submitted by expert panel for details.

CA8603465

Gene: ITGA2B
Condition: Glanzmann's thrombasthenia
Inheritance Mode: Autosomal recessive inheritance
UUID: 0fc9b3bc-f0bb-46c5-b0cb-efb59ec1a323
Approved on: 2019-07-19
Published on: 2021-01-28

HGVS expressions

NM_000419.4:c.409-24C>T
NM_000419.3:c.409-24C>T
NM_000419.5:c.409-24C>T
ENST00000262407.5:c.409-24C>T
ENST00000592944.1:n.70C>T
NC_000017.11:g.44385740G>A
CM000679.2:g.44385740G>A
NC_000017.10:g.42463108G>A
CM000679.1:g.42463108G>A
NC_000017.9:g.39818634G>A
NG_008331.1:g.8766C>T
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Benign

Met criteria codes 2
BP7 BA1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Platelet Disorders VCEP
The c.409-24C>T 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 0.008379 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.
Met criteria codes
BP7
No significant splicing motif alteration detected using Human Splicing Finder and MaxEntScan.
BA1
The African population in gnomAD has an allele frequency of 0.008379 (204/24348 alleles).
Curation History
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