Is ASIP p.Ile62= (c.186C>T) pathogenic?

ASIP p.Ile62= (c.186C>T) is classified Likely benign in ASIP (ClinVar, No assertion criteria, 1 submitter; last evaluated 2024-07-18). Rare (popmax 0.173%, afr); Associated with ASIP-related condition.

What condition is associated with ASIP p.Ile62= (c.186C>T)?

ASIP p.Ile62= (c.186C>T) is associated with ASIP-related condition (ClinVar).

How common is ASIP p.Ile62= (c.186C>T) in the general population?

ASIP p.Ile62= (c.186C>T) is rare (popmax 0.173%, afr) (gnomAD).

ASIP p.Ile62=

c.186C>T · VCV3352708

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

rare (popmax 0.173%, afr)

Conditions

ASIP-related condition

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 4.5	GERP 1.7, phastCons 1
Overall
CADD	14.8	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.173% African / African-American · 130/74,968 alleles

Filtering AF 0.149% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.14%

Overall 0.0103% 167/1,613,882 alleles · rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.173%	577
Middle Eastern	0.033%	3,030
Remaining individualsnot grpmax-eligible	0.0144%	6,944
Admixed American	0.0117%	8,572
East Asian	0.00891%	11,220
South Asian	0.00439%	22,765
European (non-Finnish)	0.000932%	107,264

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: ASIP
Protein: p.Ile62=
Coding: c.186C>T
MANE Select: NM_000687 · reported on NM_001672
Type: single nucleotide variant
Location: chr20:34262857 (GRCh38)

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

Disease context

ASIP-related condition

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/asip-p-ile62 (accessed [today's date]).

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