Evidence Repository - Clinical Genome Resources

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

Variant: NM_000212.2(ITGB3):c.342T>C (p.Ile114=)

CA8622916

255540 (ClinVar)

Gene: ITGB3

Condition: Glanzmann's thrombasthenia

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 9b9e1625-5f63-4b04-aef5-9fa3f6098f24

HGVS expressions

NM_000212.2:c.342T>C

NM_000212.2(ITGB3):c.342T>C (p.Ile114=)

ENST00000559488.7:c.342T>C

ENST00000559488.5:c.342T>C

ENST00000560629.1:n.307T>C

ENST00000571680.1:c.342T>C

NM_000212.3:c.342T>C

NC_000017.11:g.47283530T>C

CM000679.2:g.47283530T>C

NC_000017.10:g.45360896T>C

CM000679.1:g.45360896T>C

NC_000017.9:g.42715895T>C

NG_008332.2:g.34689T>C

Benign

BA1 BP7 BP4

Evidence Links 0

Expert Panel

Platelet Disorders VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Platelet Disorders VCEP

The NM_000212.2:c.342T>C variant, which leads to a synonymous change, Ile114Ile, is reported at a high frequency in the African population in gnomAD and ExAC (0.05). In-silico splicing predictors do not predict splicing impact. PMID: 27469266 reports on this and other polymorphic, non-causal variants found in linkage disequilibrium with deleterious mutations in GT patients. Ile114Ile is classified as a benign variant. GT-specific criteria applied: BA1, BP4, and BP7.

BA1

This variant is reported in 1342/24024 African alleles in gnomAD, with 38 homozygotes. The allele frequency of 0.0558 is higher than the threshold of 0.0024 for BA1 criteria. This variant meets BA1.

BP7

SpliceAI and MaxEntScan predict no impact to splicing, with no score change between native and mutated sequences. The nucleotide is not conserved (-0.3756)

BP4

SpliceAI and MaxEntScan predict no impact to splicing, with no score change between native and mutated sequences.

Approved on: 2021-05-07

Published on: 2021-05-07

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