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_000419.4(ITGA2B):c.2916G>A (p.Pro972=)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA8602530

435530 (ClinVar)

Gene: ITGA2B

Condition: Glanzmann's thrombasthenia

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: a2098f23-c14b-4e8a-a5db-be79298db2f6

Approved on: 2021-05-07

Published on: 2021-05-07

HGVS expressions

NM_000419.4:c.2916G>A

NM_000419.4(ITGA2B):c.2916G>A (p.Pro972=)

ENST00000262407.6:c.2916G>A

ENST00000648408.1:n.2347G>A

ENST00000262407.5:c.2916G>A

ENST00000587295.5:n.253+1147G>A

ENST00000588098.1:n.10G>A

ENST00000592462.5:n.2427G>A

NM_000419.3:c.2916G>A

NM_000419.5:c.2916G>A

NC_000017.11:g.44374686C>T

CM000679.2:g.44374686C>T

NC_000017.10:g.42452054C>T

CM000679.1:g.42452054C>T

NC_000017.9:g.39807580C>T

NG_008331.1:g.19820G>A

Benign

BA1 BP7 BP4

PP4

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.2916G>A; p.Pro972= synonymous variant has not been reported in the literature to our knowledge. It is present in a non-Finnish European control population at an allele frequency of 0.005351 and no splice impact is predicted. In summary, this variant meets criteria to be classified as benign for GT. GT-specific criteria applied: BA1, BP4, and BP7.

BA1

The overall allele frequency in gnomAD is 0.002856 with a MAF of 0.005351 (689/128,750 alleles) in the non-Finnish European population. This is above the threshold of >0.0024.

BP7

No significant splicing motif alteration detected using Human Splicing Finder and MaxEntScan. The nucleotide is not highly conserved (PhyloP score -0.45).

BP4

No significant splicing motif alteration detected using Human Splicing Finder and MaxEntScan.

PP4

This variant has been observed to be heterozygous in two individuals tested with either a "comprehensive platelet disorder panel" or "inherited thrombocytopenia panel". Both have thrombocytopenia with absent or mild bleeding phenotypes. They do not have phenotypes highly specific for GT.

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.