Is ITGA2B p.Pro772= (c.2316G>A) pathogenic?

ITGA2B p.Pro772= (c.2316G>A) is classified Likely benign in ITGA2B (ClinVar, Multiple submitters, 2 submitters; last evaluated 2026-04-21). Ultra-rare (popmax 0.0214%, afr); Associated with Glanzmann thrombasthenia.

What condition is associated with ITGA2B p.Pro772= (c.2316G>A)?

ITGA2B p.Pro772= (c.2316G>A) is associated with Glanzmann thrombasthenia (ClinVar).

How common is ITGA2B p.Pro772= (c.2316G>A) in the general population?

ITGA2B p.Pro772= (c.2316G>A) is ultra-rare (popmax 0.0214%, afr) (gnomAD).

How is Glanzmann thrombasthenia inherited?

Typically Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

ITGA2B p.Pro772=

c.2316G>A · VCV3710472

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

ultra-rare (popmax 0.0214%, afr)

Conditions

Glanzmann thrombasthenia

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -7.9	GERP -2.5
Overall
CADD	0.224	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0214% African / African-American · 16/74,890 alleles

Filtering AF 0.0133% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0109%

Overall 0.00211% 34/1,614,056 alleles · ultra-rare exomes 25/1,461,894 · genomes 9/152,162 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.0214%	4,681
Admixed American	0.00333%	29,999
Remaining individualsnot grpmax-eligible	0.0016%	62,490
European (non-Finnish)	0.00127%	78,671

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: ITGA2B
Protein: p.Pro772=
Coding: c.2316G>A
MANE Select: NM_000419
Type: single nucleotide variant
Location: chr17:44376340 (GRCh38)
Gene constraint: LOEUF 0.763 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 88.00 · 80 PDB
Residue 772: a β-strand

Full ITGA2B gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Glanzmann thrombasthenia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Glanzmann thrombasthenia (Orphanet):

Inheritance: Autosomal recessive
Onset: Infancy, Neonatal

Similar variants

ITGA2B p.Pro772Arg Uncertain significance ★★★ ⚠ same residue
ITGA2B p.Pro772Leu Uncertain significance ★★ ⚠ same residue
ITGA2B c.1210+105A>G Likely pathogenic ★★★ same condition
ITGA2B c.1210+5G>A Likely pathogenic ★★★ same condition
ITGA2B c.1211-1G>C Likely pathogenic ★★★ same condition
ITGA2B c.1544+1G>A Pathogenic ★★★ same condition
ITGA2B c.1545-1G>A Pathogenic ★★★ same condition
ITGA2B c.1600+1G>A Pathogenic ★★★ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/itga2b-p-pro772 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown