NM_000212.2:c.362-30G>A

CA8622942

Gene: ITGB3

Condition: Glanzmann's thrombasthenia

Inheritance Mode: Autosomal recessive inheritance

UUID: 35531e72-0652-4b08-8459-0ba0d657b4a3

Approved on: 2020-07-02

Published on: 2021-01-28

HGVS expressions

NM_000212.2:c.362-30G>A
NM_000212.3:c.362-30G>A
ENST00000559488.5:c.362-30G>A
ENST00000560629.1:n.327-30G>A
ENST00000571680.1:c.362-30G>A
NC_000017.11:g.47284413G>A
CM000679.2:g.47284413G>A
NC_000017.10:g.45361779G>A
CM000679.1:g.45361779G>A
NC_000017.9:g.42716778G>A
NG_008332.2:g.35572G>A

Benign

• Met criteria codes: BP7 BA1

Expert Panel

Platelet Disorders VCEP

Criteria Specification Information

Evidence submitted by expert panel

Platelet Disorders VCEP

The NM_000212.2:c.362-30G>A intronic variant is reported at a high frequency in South Asians in gnomAD and 1000 Genomes population databases (0.047) and is not predicted to have an impact on splicing. It is classified benign as the variant meets criteria for BA1. GT-specific criteria applied: BA1 and BP7.

Met criteria codes

• BP7: Splicing prediction algorithms HSF and MaxEntScan predict no impact to the splice consensus sequence nor the creation of a new splice site.
• BA1: Highest subpopulation frequency in gnomAD in South Asians: 0.04745 (1452/30600 alleles) with 40 homozygotes. Similarly, highest subpopulation frequency in 1000 genomes in South Asians: 0.04806 (47/978 alleles). The subpopulation MAF is >0.0024, the recommended threshold for BA1 for GT.