Is ADAMTS16 p.Pro971= (c.2913T>C) pathogenic?

ADAMTS16 p.Pro971= (c.2913T>C) is classified Likely benign in ADAMTS16 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-02-16). Absent from gnomAD v4.1.

How common is ADAMTS16 p.Pro971= (c.2913T>C) in the general population?

ADAMTS16 p.Pro971= (c.2913T>C) is absent from gnomAD v4.1 (gnomAD).

ADAMTS16 p.Pro971=

c.2913T>C · VCV3910443

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 -6.3	GERP -3.5
Overall
CADD	0.08	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: ADAMTS16
Protein: p.Pro971=
Coding: c.2913T>C
MANE Select: NM_139056
Type: single nucleotide variant
Location: chr5:5303391 (GRCh38)
Gene constraint: LOEUF 0.794 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 72.07
Residue 971: a disulfide bond; the tsp type-1 3 domain

Full ADAMTS16 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ADAMTS16 p.Val734Ile Benign ★★ same type
ADAMTS16 p.Ala1059Thr Uncertain significance ★ ⚠ same type
ADAMTS16 p.Ala1110Asp Uncertain significance ★ ⚠ same type
ADAMTS16 p.Ala1121Ser Uncertain significance ★ ⚠ same type
ADAMTS16 p.Ala1140Val Uncertain significance ★ ⚠ same type
ADAMTS16 p.Ala34Val Uncertain significance ★ ⚠ same type
ADAMTS16 p.Ala35Val Uncertain significance ★ ⚠ same type
ADAMTS16 p.Ala383Thr 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/adamts16-p-pro971 (accessed [today's date]).

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