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]

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

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.

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