Is BAMBI p.Pro115Ser (c.343C>T) pathogenic?

BAMBI p.Pro115Ser (c.343C>T) is classified Uncertain significance in BAMBI (ClinVar, Single submitter, 1 submitter; last evaluated 2024-09-11). AlphaMissense: likely benign (0.0649); Absent from gnomAD v4.1.

How common is BAMBI p.Pro115Ser (c.343C>T) in the general population?

BAMBI p.Pro115Ser (c.343C>T) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about BAMBI p.Pro115Ser (c.343C>T)?

AlphaMissense predicts likely benign (score 0.0649) — an in-silico prediction, not a clinical call.

BAMBI p.Pro115Ser

c.343C>T · VCV3476125

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.0649 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.0649	likely benign
REVEL	0.055	moderately benign-leaning
SaProt	LLR -5.70	tolerated
⇒ AlphaMissense, REVEL and SaProt all call this tolerated.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 2.3	GERP -0.19, phastCons 1
Regional constraint	o/e 1.18	unconstrained · MANE · 4,500 bp · p 0.0012 · regional, not allelic
Overall
CADD	16.43	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

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: BAMBI
Protein: p.Pro115Ser
Coding: c.343C>T
MANE Select: NM_012342
Type: single nucleotide variant
Location: chr10:28681524 (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.Arg177Gln Uncertain significance ★ ⚠ same type
BAMBI p.Arg187Gln Uncertain significance ★ ⚠ same type
BAMBI p.Arg193His 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-pro115ser (accessed [today's date]).

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