Is BAMBI p.Arg177Gln (c.530G>A) pathogenic?

BAMBI p.Arg177Gln (c.530G>A) is classified Uncertain significance in BAMBI (ClinVar, Single submitter, 1 submitter; last evaluated 2025-11-03). AlphaMissense: likely benign (0.1781); Ultra-rare (popmax 0.0187%, afr).

How common is BAMBI p.Arg177Gln (c.530G>A) in the general population?

BAMBI p.Arg177Gln (c.530G>A) is ultra-rare (popmax 0.0187%, afr) (gnomAD).

What do computational predictors say about BAMBI p.Arg177Gln (c.530G>A)?

AlphaMissense predicts likely benign (score 0.1781) — an in-silico prediction, not a clinical call.

BAMBI p.Arg177Gln

c.530G>A · VCV4645161

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.1781 · ACMG-weighted

gnomAD v4.1

Rare

ultra-rare (popmax 0.0187%, afr)

Missense predictors

0/2 damaging

AlphaMissense, SaProt · REVEL no call

Computational evidence

Protein change
AlphaMissense	0.1781	likely benign
REVEL	0.292	indeterminate
SaProt	LLR -7.92	tolerated
⇒ AlphaMissense and SaProt both call this tolerated; REVEL makes no call.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 9.9	GERP 1.8, phastCons 1
Regional constraint	o/e 1.18	unconstrained · MANE · 4,500 bp · p 0.0012 · regional, not allelic
Overall
CADD	28.0	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean tolerated — a triage signal, not a reclassification

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0187% African / African-American · 14/74,888 alleles

Filtering AF 0.0112% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00905%

Overall 0.00242% 39/1,613,994 alleles · ultra-rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.0187%	5,349
Remaining individualsnot grpmax-eligible	0.0032%	31,243
European (non-Finnish)	0.00195%	51,305

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: BAMBI
Protein: p.Arg177Gln
Coding: c.530G>A
MANE Select: NM_012342
Type: single nucleotide variant
Location: chr10:28682148 (GRCh38)
Gene constraint: LOEUF 1.302 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 64.81

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

Similar variants

BAMBI p.Arg126= Benign ★★ same type
BAMBI p.Val208Ile Benign/Likely benign ★★ same type
BAMBI p.Ala209Val Uncertain significance ★ ⚠ same type
BAMBI p.Arg107Lys Uncertain significance ★ ⚠ same type
BAMBI p.Arg107Thr Uncertain significance ★ ⚠ same type
BAMBI p.Arg187Gln Uncertain significance ★ ⚠ same type
BAMBI p.Arg193His Uncertain significance ★ ⚠ same type
BAMBI p.Arg193Ser 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/bambi-p-arg177gln (accessed [today's date]).

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