Is BUB3 p.Gln271= (c.813A>G) pathogenic?

BUB3 p.Gln271= (c.813A>G) is classified Likely benign in BUB3 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-07-17). Very rare (popmax 0.00225%, sas).

How common is BUB3 p.Gln271= (c.813A>G) in the general population?

BUB3 p.Gln271= (c.813A>G) is very rare (popmax 0.00225%, sas) (gnomAD).

BUB3 p.Gln271=

c.813A>G · rs754952400 · VCV1762145

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00225%, sas)

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 1.2	GERP -0.68, phastCons 1
Overall
CADD	7.695	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00225% South Asian · 2/88,712 alleles

Filtering AF 0.000374% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00014%

Overall 0.000344% 5/1,452,520 alleles · very rare

Ancestry group	Frequency	1 in
South Asiangrpmax	0.00225%	44,356
East Asian	0.00223%	44,854
European (non-Finnish)	0.00017%	588,949

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: BUB3
Protein: p.Gln271=
Coding: c.813A>G
MANE Select: NM_004725
dbSNP: rs754952400
Type: single nucleotide variant
Location: chr10:123162670 (GRCh38)
Gene constraint: LOEUF 0.77 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 96.10

Full BUB3 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

BUB3 p.Arg314= Likely benign ★★ same type
BUB3 p.Ser197= Likely benign ★★ same type
BUB3 p.Ser198= Likely benign ★★ same type
BUB3 p.Ala131Val Uncertain significance ★ ⚠ same type
BUB3 p.Ala155Val Uncertain significance ★ ⚠ same type
BUB3 p.Ala187Gly Uncertain significance ★ ⚠ same type
BUB3 p.Ala239Gly Uncertain significance ★ ⚠ same type
BUB3 p.Ala292Val Uncertain significance ★ ⚠ same type

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/bub3-p-gln271 (accessed [today's date]).

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