Is ITGA2B p.Ser77= (c.231C>T) pathogenic?

ITGA2B p.Ser77= (c.231C>T) is classified Likely benign in ITGA2B (ClinVar, No assertion criteria, 1 submitter; last evaluated 2021-02-03). Absent from gnomAD v4.1; Associated with ITGA2B-related disorder.

What condition is associated with ITGA2B p.Ser77= (c.231C>T)?

ITGA2B p.Ser77= (c.231C>T) is associated with ITGA2B-related disorder (ClinVar).

How common is ITGA2B p.Ser77= (c.231C>T) in the general population?

ITGA2B p.Ser77= (c.231C>T) is absent from gnomAD v4.1 (gnomAD).

ITGA2B p.Ser77=

c.231C>T · rs2510085520 · VCV3030823

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

ITGA2B-related disorder

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 0.42	GERP -1.1
Overall
CADD	9.235	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: ITGA2B
Protein: p.Ser77=
Coding: c.231C>T
MANE Select: NM_000419
dbSNP: rs2510085520
Type: single nucleotide variant
Location: chr17:44386089 (GRCh38)
Gene constraint: LOEUF 0.763 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 88.00 · 80 PDB

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

Disease context

ITGA2B-related disorder

Similar variants

ITGA2B p.Ser77Asn Uncertain significance ★★★ ⚠ same residue
ITGA2B c.800-1G>A Likely pathogenic ★★ same condition
ITGA2B p.Pro483Ser Uncertain significance ★★ ⚠ same condition
ITGA2B c.2728-2A>G Likely pathogenic ★ same condition
ITGA2B p.Gly201Ala Uncertain significance ★ ⚠ same condition
ITGA2B p.Pro23Arg Uncertain significance ★ ⚠ same condition
ITGA2B p.Ser557Cys Conflicting classifications of pathogenicity ★ same condition
ITGA2B p.Trp999Arg Conflicting classifications of pathogenicity ★ ⚠ 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-ser77 (accessed [today's date]).

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