Is ROBO2 p.Pro1371= (c.4113A>G) pathogenic?

ROBO2 p.Pro1371= (c.4113A>G) is classified Likely benign in ROBO2 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-12-01). Absent from gnomAD v4.1.

How common is ROBO2 p.Pro1371= (c.4113A>G) in the general population?

ROBO2 p.Pro1371= (c.4113A>G) is absent from gnomAD v4.1 (gnomAD).

ROBO2 p.Pro1371=

c.4113A>G · VCV4681921

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.043	moderately benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 4.1	GERP 1.6, phastCons 1
Overall
CADD	10.77	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: ROBO2
Protein: p.Pro1371=
Coding: c.4113A>G
MANE Select: NM_001395656
Type: single nucleotide variant
Location: chr3:77642837 (GRCh38)
Gene constraint: LOEUF 0.412 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 67.78 · 6 PDB

Full ROBO2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ROBO2 c.1244-1G>A Uncertain significance ★★ same type
ROBO2 c.3148+2T>C Uncertain significance ★★ same type
ROBO2 p.Ala112Gly Uncertain significance ★★ same type
ROBO2 p.Ala1211Gly Uncertain significance ★★ ⚠ same type
ROBO2 p.Ala124= Uncertain significance ★★ same type
ROBO2 p.Ala124Val Uncertain significance ★★ same type
ROBO2 p.Ala556Thr Uncertain significance ★★ ⚠ same type
ROBO2 p.Ala824Val 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/robo2-p-pro1371 (accessed [today's date]).

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