Is ADSS1 p.Ile167= (c.501C>T) pathogenic?

ADSS1 p.Ile167= (c.501C>T) is classified Likely benign in ADSS1 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-03-17). Very rare (popmax 0.00267%, afr).

How common is ADSS1 p.Ile167= (c.501C>T) in the general population?

ADSS1 p.Ile167= (c.501C>T) is very rare (popmax 0.00267%, afr) (gnomAD).

ADSS1 p.Ile167=

c.501C>T · rs752562610 · VCV1938016

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00267%, afr)

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 -11	GERP -2.1
Overall
CADD	2.223	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00267% African / African-American · 2/74,900 alleles

Filtering AF 0.000443% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000166%

Overall 0.000496% 8/1,613,792 alleles · very rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.00267%	37,450
Remaining individualsnot grpmax-eligible	0.0016%	62,476
Finnishnot grpmax-eligible	0.00157%	63,886
European (non-Finnish)	0.000339%	294,999

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: ADSS1
Protein: p.Ile167=
Coding: c.501C>T
MANE Select: NM_152328
dbSNP: rs752562610
Type: single nucleotide variant
Location: chr14:104740625 (GRCh38)
Gene constraint: LOEUF 1.245 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 93.10

Full ADSS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ADSS1 p.Ile167Thr Uncertain significance ★ ⚠ same residue
ADSS1 c.949-2A>G Likely pathogenic ★★ same type
ADSS1 p.Asp261Asn Pathogenic/Likely pathogenic ★★ same type
ADSS1 p.Gln323Ter Pathogenic/Likely pathogenic ★★ same type
ADSS1 c.193-4823C>A Uncertain significance ★★ same type
ADSS1 c.193-4836G>A Uncertain significance ★★ same type
ADSS1 c.193-4838G>A Uncertain significance ★★ same type
ADSS1 c.193-4866C>T 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/adss1-p-ile167 (accessed [today's date]).

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