Evidence Repository
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.

Variant: NM_000419.5(ITGA2B):c.1945G>T (p.Val649Leu)

CA8602902

323549 (ClinVar)

Gene: ITGA2B
Condition: Glanzmann's thrombasthenia
Inheritance Mode: Autosomal recessive inheritance
Link to MONDO
UUID: de723507-813f-4853-952b-a696b4a3a991
Approved on: 2020-06-04
Published on: 2021-01-23

HGVS expressions

NM_000419.5:c.1945G>T
NM_000419.5(ITGA2B):c.1945G>T (p.Val649Leu)
NC_000017.11:g.44378644C>A
CM000679.2:g.44378644C>A
NC_000017.10:g.42456012C>A
CM000679.1:g.42456012C>A
NC_000017.9:g.39811538C>A
NG_008331.1:g.15862G>T
NM_000419.3:c.1945G>T
NM_000419.4:c.1945G>T
ENST00000262407.5:c.1945G>T
ENST00000592462.5:n.740G>T
More

Benign

Met criteria codes 2
BA1 BP4

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Platelet Disorders VCEP
The NM_000419.5:c.1945G>T (p.Val649Leu) variant occurs at an allele frequency of 0.01773 in the gnomAD African population and is predicted by REVEL score of 0.035 to have no impact. In summary, the variant is classified as benign. GT-specific criteria applied: BA1 and BP4.
Met criteria codes
BA1
The overall allele frequency in gnomAD is 0.00175 with a MAF of 0.01773 (340/19,174 alleles) in the African population. This is above the threshold of >0.0024.
BP4
REVEL score of 0.035 is below the <0.25 threshold.
Curation History
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