Is TRIP13 p.Asp244= (c.732C>T) pathogenic?

TRIP13 p.Asp244= (c.732C>T) is classified Benign/Likely benign in TRIP13 (ClinVar, Multiple submitters, 3 submitters; last evaluated 2025-07-30). Ultra-rare (popmax 0.0384%, sas).

How common is TRIP13 p.Asp244= (c.732C>T) in the general population?

TRIP13 p.Asp244= (c.732C>T) is ultra-rare (popmax 0.0384%, sas) (gnomAD).

TRIP13 p.Asp244=

c.732C>T · rs183763272 · VCV2722543

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

gnomAD v4.1

Rare

ultra-rare (popmax 0.0384%, sas)

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.067	moderately benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -5.1	GERP -4.9
Overall
CADD	4.42	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0384% South Asian · 35/91,086 alleles

Filtering AF 0.0283% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0249%

Overall 0.031% 501/1,614,192 alleles · ultra-rare exomes 456/1,461,892 · genomes 45/152,300 · joint denominator

Ancestry group	Frequency	1 in
Finnishnot grpmax-eligible	0.255%	393
South Asiangrpmax	0.0384%	2,602
Remaining individualsnot grpmax-eligible	0.0288%	3,473
European (non-Finnish)	0.0234%	4,275
Middle Eastern	0.0165%	6,062
East Asian	0.0111%	8,976
African / African-American	0.004%	25,016

Finnish shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.

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: TRIP13
Protein: p.Asp244=
Coding: c.732C>T
MANE Select: NM_004237
dbSNP: rs183763272
Type: single nucleotide variant
Location: chr5:908047 (GRCh38)
Gene constraint: LOEUF 0.592 · pLI 0.19 (gnomAD)
Structure: AlphaFold pLDDT 86.94 · 6 PDB

Full TRIP13 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

TRIP13 p.Ala92Glu Uncertain significance ★★ ⚠ same type
TRIP13 p.Arg28Ser Uncertain significance ★★ ⚠ same type
TRIP13 p.Arg347Cys Uncertain significance ★★ ⚠ same type
TRIP13 p.Asp238Asn Uncertain significance ★★ ⚠ same type
TRIP13 p.Ile330Val Uncertain significance ★★ ⚠ same type
TRIP13 p.Lys379Arg Uncertain significance ★★ ⚠ same type
TRIP13 p.Val307Met Uncertain significance ★★ ⚠ same type
TRIP13 c.1021-18G>A Likely benign ★★ 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/trip13-p-asp244 (accessed [today's date]).

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