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]
Link to SEPIO compliant JSON-LD document
  • No ClinVar Id was directly found from the curated document
  • ClinVar Id was derived from the Allele Registry.
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC related information was provided by the message!
  • No CSPEC computed assertion could be determined for this classification!
  • See Evidence submitted by expert panel for details.

CA8623029

996178 (ClinVar)

Gene: ITGB3
Condition: Glanzmann's thrombasthenia
Inheritance Mode: Autosomal recessive inheritance
Link to MONDO
UUID: 26c4ccbb-4c0b-42ae-8e63-ac4b72a092c5
Approved on: 2020-10-20
Published on: 2021-01-22

HGVS expressions

NM_000212.3:c.709_710del
NC_000017.11:g.47286354_47286355del
CM000679.2:g.47286354_47286355del
NC_000017.10:g.45363720_45363721del
CM000679.1:g.45363720_45363721del
NC_000017.9:g.42718719_42718720del
NG_008332.2:g.37513_37514del
ENST00000696963.1:c.709_710del
ENST00000559488.7:c.709_710del
ENST00000559488.5:c.709_710del
ENST00000560629.1:c.674_675del
ENST00000571680.1:c.709_710del
NM_000212.2:c.709_710del

Pathogenic

Met criteria codes 3
PM2_Supporting PP4_Strong PVS1
Not Met criteria codes 1
PM3

Evidence Links 1

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Platelet Disorders VCEP
NM_000212.3(ITGB3):c.709_710del is a frameshift deletion variant located on exon 5 and predicted to cause nonsense medicated decay. It is absent from major population databases. This variant has been reported in a symptomatic individual who meets diagnostic criteria for the GT phenotype (PMID: 25728920 ). This variant meets PVS1, PM2_Supporting and PP4_Strong GT specific criteria and has therefore been classified as Pathogenic.
Met criteria codes
PM2_Supporting
Absent from population databases (gnomAD/1000Genomes/ExAC)
PP4_Strong
PMID:25728920 has reported this variant in an individual (GT3) with significant mucocutaneous bleeding, platelet aggregation was absent with three physiological agonists (normal with ristocetin) and flow cytometry demonstrated reduced (<5%) surface expression of αIIbβ3. Sanger sequencing ensured coverage of exons and splice sites of the ITGA2B and ITGB3 genes as well as untranslated regions (UTR).
PubMed:25728920
PVS1
This variant causes a frameshift deletion located on exon 5, which is predicted to cause NMD due to a premature stop codon.
Not Met criteria codes
PM3
PMID: 25728920 has reported this variant in a proband (GT3) who is triple heterozygous with two other missense variants p.Leu118His and p.Asp578Asn. This evidence is not considered here to avoid circularity.
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