Is ADAMTS10 p.Ser95Phe (c.284C>T) pathogenic?

ADAMTS10 p.Ser95Phe (c.284C>T) is classified Uncertain significance in ADAMTS10 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-06-08). AlphaMissense: likely benign (0.171); Absent from gnomAD v4.1.

How common is ADAMTS10 p.Ser95Phe (c.284C>T) in the general population?

ADAMTS10 p.Ser95Phe (c.284C>T) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about ADAMTS10 p.Ser95Phe (c.284C>T)?

AlphaMissense predicts likely benign (score 0.171) — an in-silico prediction, not a clinical call.

ADAMTS10 p.Ser95Phe

c.284C>T · rs2512653833 · VCV2003364

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.171 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

1/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.171	likely benign
REVEL	0.121	moderately benign-leaning
SaProt	LLR -10.51	damaging
⇒ SaProt calls this damaging; AlphaMissense and REVEL do not.
Splicing
SpliceAI	<0.2	all four deltas below 0.2 · G>C here scores Δ0.23 · evaluated, not missing
Constraint at this position
Conservation	phyloP 8.2	GERP 0.9, phastCons 1
Regional constraint	o/e 0.89	unconstrained · MANE · 4,705 bp · p 0.038 · regional, not allelic
Overall
CADD	24.5	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

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: ADAMTS10
Protein: p.Ser95Phe
Coding: c.284C>T
MANE Select: NM_030957
dbSNP: rs2512653833
Type: single nucleotide variant
Location: chr19:8605163 (GRCh38)
Gene constraint: LOEUF 0.467 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 73.88

Full ADAMTS10 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ADAMTS10 c.810+1G>A Likely pathogenic ★★ same type
ADAMTS10 p.Arg237Ter Pathogenic ★★ same type
ADAMTS10 c.1337+3G>T Uncertain significance ★★ same type
ADAMTS10 c.1587+6C>A Uncertain significance ★★ same type
ADAMTS10 c.894+5G>A Uncertain significance ★★ same type
ADAMTS10 c.-99-3C>T Uncertain significance ★★ same type
ADAMTS10 p.Ala13Thr Uncertain significance ★★ ⚠ same type
ADAMTS10 p.Ala247Ser 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/adamts10-p-ser95phe (accessed [today's date]).

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