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]
  • No Criteria Specification was provided in the publication event for the variant classifaction.
  • The Criteria Specification shown below is a best-estimate based on the VCEP, gene, disease, and publication date.

Variant: NM_000419.4(ITGA2B):c.2127G>A (p.Lys709=)

CA8602814

323547 (ClinVar)

Gene: ITGA2B (HGNC:3674)
Condition: Glanzmann's thrombasthenia (MONDO:0010119)
Inheritance Mode: Autosomal recessive inheritance
UUID: 974b3842-4997-48f5-8619-5a26d4705f51
Approved on: 2019-09-18
Published on: 2021-01-28

HGVS expressions

NM_000419.4:c.2127G>A
NM_000419.4(ITGA2B):c.2127G>A (p.Lys709=)
NM_000419.3:c.2127G>A
NM_000419.5:c.2127G>A
ENST00000262407.5:c.2127G>A
ENST00000592462.5:n.922G>A
NC_000017.11:g.44377758C>T
CM000679.2:g.44377758C>T
NC_000017.10:g.42455126C>T
CM000679.1:g.42455126C>T
NC_000017.9:g.39810652C>T
NG_008331.1:g.16748G>A
More

Benign

Met criteria codes 1
BA1
Not Met criteria codes 1
BP7

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Platelet Disorders VCEP
The Lys709= synonymous variant occurs at an allele frequency in gnomAD of 0.001729 with a MAF of 0.01699 (424/24,960 alleles) in the African population. This is above the >0.0024 threshold. This variant meets criteria to be classified as Benign by the ClinGen Platelet Disorders VCEP. GT-specific criteria met: BA1.
Met criteria codes
BA1
The overall allele frequency in gnomAD is 0.001729 with a MAF of 0.01699 (424/24,960 alleles) in the African population. This is above the >0.0024 threshold.
Not Met criteria codes
BP7
HSF identifies activation of an exonic cryptic acceptor site, with potential alteration of splicing. However this is not identified by other splice site predictors.
Curation History
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