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]

Variant: NM_000419.5(ITGA2B):c.1815G>A (p.Pro605=)

Curation Version - 2.0
Curation History
JSON LD for Version 2.0

CA8602938

323551 (ClinVar)

Gene: ITGA2B

Condition: Glanzmann thrombasthenia

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: ac6a7969-418a-42b9-9a09-991c53659315

Approved on: 2022-06-13

Published on: 2022-06-13

HGVS expressions

NM_000419.5:c.1815G>A

NM_000419.5(ITGA2B):c.1815G>A (p.Pro605=)

NC_000017.11:g.44379752C>T

CM000679.2:g.44379752C>T

NC_000017.10:g.42457120C>T

CM000679.1:g.42457120C>T

NC_000017.9:g.39812646C>T

NG_008331.1:g.14754G>A

ENST00000262407.6:c.1815G>A

ENST00000648408.1:n.1246G>A

ENST00000262407.5:c.1815G>A

ENST00000592462.5:n.610G>A

NM_000419.3:c.1815G>A

NM_000419.4:c.1815G>A

Benign

BA1 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 c.1815G>A variant is a synonymous (silent) variant (p.Pro605=) that is not predicted by SpliceAI to impact splicing (BP4). The highest population minor allele frequency in gnomAD v3.1.2 is 0.03782 (1565/41378 alleles) in African/African American population, which is higher than the ClinGen PD VCEP threshold (>0.0024) for BA1, and therefore meets this criterion (BA1). 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, BP7. (VCEP specifications version 2; date of approval 4/14/2022)

BA1

The highest population minor allele frequency in gnomAD v3.1.2 is 0.03782 (1565/41378 alleles) in African/African American population, which is higher than the ClinGen PD VCEP threshold (>0.0024) for BA1, and therefore meets this criterion (BA1).

BP4

The c.1815G>A (p.Pro605=) variant is a synonymous variant that is not predicted by SpliceAI to impact splicing (BP4).

Curation History

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