Is TRIP11 p.Ser797= (c.2391A>G) pathogenic?

TRIP11 p.Ser797= (c.2391A>G) is classified Likely benign in TRIP11 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-02-24). Very rare (popmax 0.00267%, afr); Associated with achondrogenesis type IA.

What condition is associated with TRIP11 p.Ser797= (c.2391A>G)?

TRIP11 p.Ser797= (c.2391A>G) is associated with achondrogenesis type IA (ClinVar).

How common is TRIP11 p.Ser797= (c.2391A>G) in the general population?

TRIP11 p.Ser797= (c.2391A>G) is very rare (popmax 0.00267%, afr) (gnomAD).

How is Achondrogenesis inherited?

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

TRIP11 p.Ser797=

c.2391A>G · rs750316685 · VCV1638503

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00267%, afr)

Conditions

achondrogenesis type IA

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.552	indeterminate
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP -0.92	GERP -4, phastCons 0.006
Overall
CADD	2.079	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00267% African / African-American · 2/74,936 alleles

Filtering AF 0.000689% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000539%

Overall 0.00118% 19/1,613,428 alleles · very rare exomes 19/1,461,068 · genomes 0/152,360 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.00267%	37,468
Admixed American	0.00167%	59,886
Remaining individualsnot grpmax-eligible	0.0016%	62,478
European (non-Finnish)	0.00119%	84,279
South Asian	0.0011%	90,848

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.Ser797=
Coding: c.2391A>G
MANE Select: NM_004239
dbSNP: rs750316685
Type: single nucleotide variant
Location: chr14:92005585 (GRCh38)
Gene constraint: LOEUF 0.731 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 66.78
Residue 797: a UniProt-annotated variant site (in odcd1; due to a nucleotide substitution that causes protein truncation or in-frame exon 4 skipping); a UniProt-annotated variant site (in acg1a and odcd1)

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.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
TRIP11 c.5719+2T>C Uncertain significance ★★ 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-ser797 (accessed [today's date]).

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