Is TRIP11 p.Arg70= (c.210G>A) pathogenic?

TRIP11 p.Arg70= (c.210G>A) is classified Likely benign in TRIP11 (ClinVar, Single submitter, 1 submitter; last evaluated 2018-10-30). Very rare (popmax 0.00204%, nfe); Associated with achondrogenesis type IA.

What condition is associated with TRIP11 p.Arg70= (c.210G>A)?

TRIP11 p.Arg70= (c.210G>A) is associated with achondrogenesis type IA (ClinVar).

How common is TRIP11 p.Arg70= (c.210G>A) in the general population?

TRIP11 p.Arg70= (c.210G>A) is very rare (popmax 0.00204%, nfe) (gnomAD).

How is Achondrogenesis inherited?

Typically Autosomal dominant, Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

TRIP11 p.Arg70=

c.210G>A · rs1364966765 · VCV794070

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00204%, nfe)

Conditions

achondrogenesis type IA

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP 0.27	GERP -3.5, phastCons 1
Overall
CADD	6.008	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00204% European (non-Finnish) · 24/1,179,042 alleles

Filtering AF 0.00138% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00116%

Overall 0.00149% 24/1,611,478 alleles · very rare exomes 24/1,459,426 · genomes 0/152,052 · joint denominator

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: TRIP11
Protein: p.Arg70=
Coding: c.210G>A
MANE Select: NM_004239
dbSNP: rs1364966765
Type: single nucleotide variant
Location: chr14:92025412 (GRCh38)
Gene constraint: LOEUF 0.731 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 66.78

Full TRIP11 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

achondrogenesis type IA — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Achondrogenesis (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive
Onset: Antenatal, Neonatal
Prevalence: 1-9 / 100 000 (France)

Similar variants

TRIP11 p.Arg70Ser Uncertain significance ★ ⚠ same residue
TRIP11 p.Arg1028Ter Pathogenic/Likely pathogenic ★★ same condition
TRIP11 p.Arg255Ter Pathogenic ★★ same condition
TRIP11 p.Arg264Ter Pathogenic ★★ same condition
TRIP11 p.Arg871Ter Pathogenic ★★ same condition
TRIP11 p.Gln1758Ter Pathogenic/Likely pathogenic ★★ same condition
TRIP11 p.Leu1321Ter Pathogenic/Likely pathogenic ★★ same condition
TRIP11 p.Trp1224Ter Pathogenic ★★ same condition

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/trip11-p-arg70 (accessed [today's date]).

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