Is ADAMTS7 p.Asp862= (c.2586C>T) pathogenic?

ADAMTS7 p.Asp862= (c.2586C>T) is classified Likely benign in ADAMTS7 (ClinVar, Single submitter, 1 submitter; last evaluated 2019-12-31). Absent from gnomAD v4.1.

How common is ADAMTS7 p.Asp862= (c.2586C>T) in the general population?

ADAMTS7 p.Asp862= (c.2586C>T) is absent from gnomAD v4.1 (gnomAD).

ADAMTS7 p.Asp862=

c.2586C>T · rs751406598 · VCV771912

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 0.071	GERP 0.77, phastCons 0.008
Overall
CADD	2.767	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: ADAMTS7
Protein: p.Asp862=
Coding: c.2586C>T
MANE Select: NM_014272
dbSNP: rs751406598
Type: single nucleotide variant
Location: chr15:78768192 (GRCh38)
Gene constraint: LOEUF 0.761 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 64.26
Residue 862: the tsp type-1 2 domain

Full ADAMTS7 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ADAMTS7 p.Arg218His Likely benign ★★ ⚠ same type
ADAMTS7 p.Cys1553= Benign/Likely benign ★★ same type
ADAMTS7 p.Pro568= Benign ★★ same type
ADAMTS7 p.Ser237= Likely benign ★★ same type
ADAMTS7 p.Thr307Met Benign ★★ ⚠ same type
ADAMTS7 p.Ala1019Thr Uncertain significance ★ ⚠ same type
ADAMTS7 p.Ala1049Thr Uncertain significance ★ ⚠ same type
ADAMTS7 p.Ala1166Thr 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/adamts7-p-asp862 (accessed [today's date]).

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