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]

Variant: NM_000212.3(ITGB3):c.2301+9C>T

CA8623491

255539 (ClinVar)

Gene: ITGB3
Condition: Glanzmann thrombasthenia
Inheritance Mode: Autosomal recessive inheritance
Link to MONDO
UUID: 664b1b68-6700-4d12-aea8-1a88872275c0
Approved on: 2023-04-06
Published on: 2023-04-07

HGVS expressions

NM_000212.3:c.2301+9C>T
NM_000212.3(ITGB3):c.2301+9C>T
NC_000017.11:g.47307646C>T
CM000679.2:g.47307646C>T
NC_000017.10:g.45385012C>T
CM000679.1:g.45385012C>T
NC_000017.9:g.42740011C>T
NG_008332.2:g.58805C>T
ENST00000559488.7:c.2301+9C>T
ENST00000559488.5:c.2301+9C>T
ENST00000560629.1:n.2266+9C>T
NM_000212.2:c.2301+9C>T
NR_110880.1:n.363-3864G>A
NR_110881.1:n.227-3864G>A
More

Benign

Met criteria codes 3
BP4 BP7 BA1

Evidence Links 0

Expert Panel

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
After a comprehensive literature search of the intronic variant NM_000212.3(ITGB3):c.2301+9C>T, no individuals with Glanzmann Thrombasthenia were reported with the variant. The variant has a high minor allele frequency of 0.4805 (11916/24800 alleles) in the African/African American population, which is higher than the ClinGen PD VCEP threshold (>0.0024), and therefore meets BA1. In silico predictor spliceAI revealed that the intronic mutation is not expected to impact splicing and a PhyloP score of -.336 shows that the nucleotide position is not highly conserved (BP4,BP7). 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, BP4 and BP7 (PD VCEP specifications version 2.1).
Met criteria codes
BP4
The c.2301+9C>T variant is an intronic variant that is not predicted by SpliceAI to impact splicing.
BP7
The c.2301+9C>T variant is an intronic variant that is not predicted by SpliceAI to impact splicing. In addition, it occurs at a nucleotide that is not conserved as shown by phyloP score of -0.336 (BP7).
BA1
The highest population minor allele frequency in gnomAD v2.1.1 is 0.4805 (11916/24800 alleles) in the African/African American population, which is higher than the ClinGen PD VCEP threshold (>0.0024), and therefore meets this criterion (BA1).
Curation History
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.
¤ Powered by BCM's Genboree.