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]
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC computer assertion could be determined for this classification!

Variant: NM_000419.5(ITGA2B):c.2915_2916delinsT (p.Pro972fs)

CA1139665645

971253 (ClinVar)

Gene: ITGA2B
Condition: Glanzmann thrombasthenia
Inheritance Mode: Autosomal recessive inheritance
Link to MONDO
UUID: a2813a38-6411-4411-aa2f-842c60a06631
Approved on: 2024-06-06
Published on: 2024-06-07

HGVS expressions

NM_000419.5:c.2915_2916delinsT
NM_000419.5(ITGA2B):c.2915_2916delinsT (p.Pro972fs)
NC_000017.11:g.44374686_44374687delinsA
CM000679.2:g.44374686_44374687delinsA
NC_000017.10:g.42452054_42452055delinsA
CM000679.1:g.42452054_42452055delinsA
NC_000017.9:g.39807580_39807581delinsA
NG_008331.1:g.19819_19820delinsT
ENST00000262407.6:c.2915_2916delinsT
ENST00000648408.1:c.2346_2347delinsT
ENST00000262407.5:c.2915_2916delinsT
ENST00000587295.5:c.253+1146_253+1147delinsT
ENST00000588098.1:c.9_10delinsT
ENST00000592462.5:n.2426_2427delinsT
NM_000419.3:c.2915_2916delinsT
NM_000419.4:c.2915_2916delinsT
More

Uncertain Significance

Met criteria codes 2
PM2_Supporting PVS1_Strong
Not Met criteria codes 1
PP4

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

PDF
Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Platelet Disorders VCEP
The NM_000419.5(ITGA2B):c.2915_2916delinsT (p.Pro972fs) variant causes a frameshift and subsequent stop loss, resulting in alteration of the remaining 68 amino acids followed by the addition of 90 amino acids to the ITGA2B protein. This alters the transmembrane domain of the protein which is considered a critical region for protein function by the Platelet Disorders VCEP (PVS1_strong). This variant is absent from gnomAD v4.0 (PM2_Supporting). In summary, this variant is classified as uncertain significance for autosomal recessive Glanzmann thrombasthenia. GT-specific criteria applied: PVS1_Strong, PM2_Supporting.
Met criteria codes
PM2_Supporting
This variant is absent from gnomAD v4.0 (PM2_Supporting).
PVS1_Strong
The NM_000419.5(ITGA2B):c.2915_2916delinsT (p.Pro972fs) variant causes a frameshift and subsequent stop loss, resulting in alteration of the remaining 68 amino acids followed by the addition of 90 amino acids to the ITGA2B protein. This alters the transmembrane domain of the protein which is considered a critical region for protein function by the Platelet Disorders VCEP. Per the SVI PVS1 decision tree, PVS1_Strong is applied.
Not Met criteria codes
PP4
ClinVar submission SCV001420389.1 from Invitae identified this variant in an individual of unreported phenotype and zygosity.
Curation History
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