Is RIGI p.Asp910= (c.2730C>T) pathogenic?

RIGI p.Asp910= (c.2730C>T) is classified Likely benign in RIGI (ClinVar, Single submitter, 1 submitter; last evaluated 2024-04-20). Absent from gnomAD v4.1.

How common is RIGI p.Asp910= (c.2730C>T) in the general population?

RIGI p.Asp910= (c.2730C>T) is absent from gnomAD v4.1 (gnomAD).

RIGI p.Asp910=

c.2730C>T · VCV3649869

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.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 0.39	GERP -3.9, phastCons 0.98
Overall
CADD	4.457	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: RIGI
Protein: p.Asp910=
Coding: c.2730C>T
MANE Select: NM_014314
Type: single nucleotide variant
Location: chr9:32457170 (GRCh38)
Structure: AlphaFold pLDDT 85.40 · 44 PDB
Residue 910: an α-helix; the rlr ctr domain; the 'interaction with zc3hav1' region; the 'mediates interaction with rnf135' region

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

Similar variants

RIGI p.Asp910Glu Uncertain significance ★ ⚠ same residue
RIGI p.Asp910Tyr Conflicting classifications of pathogenicity ★ ⚠ same residue
RIGI c.1923+1G>A Uncertain significance ★★ same type
RIGI c.954-6T>G Uncertain significance ★★ same type
RIGI p.Ala436Val Uncertain significance ★★ ⚠ same type
RIGI p.Ala486Thr Uncertain significance ★★ ⚠ same type
RIGI p.Ala537Ser Uncertain significance ★★ ⚠ same type
RIGI p.Ala537Thr 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/rigi-p-asp910 (accessed [today's date]).

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