Is ASIP p.Phe119= (c.357C>T) pathogenic?

ASIP p.Phe119= (c.357C>T) is classified Likely benign in ASIP (ClinVar, No assertion criteria, 1 submitter; last evaluated 2024-07-21). Ultra-rare (popmax 0.0806%, nfe); Associated with ASIP-related condition.

What condition is associated with ASIP p.Phe119= (c.357C>T)?

ASIP p.Phe119= (c.357C>T) is associated with ASIP-related condition (ClinVar).

How common is ASIP p.Phe119= (c.357C>T) in the general population?

ASIP p.Phe119= (c.357C>T) is ultra-rare (popmax 0.0806%, nfe) (gnomAD).

ASIP p.Phe119=

c.357C>T · VCV3358009

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

ultra-rare (popmax 0.0806%, nfe)

Conditions

ASIP-related condition

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

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 1.2	GERP 0.67, phastCons 0.67
Overall
CADD	13.91	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0806% European (non-Finnish) · 928/1,150,942 alleles

Filtering AF 0.0762% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0745%

Overall 0.0656% 1,021/1,556,916 alleles · ultra-rare exomes 953/1,404,670 · genomes 68/152,246 · joint denominator

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	0.0806%	1,240
Finnishnot grpmax-eligible	0.0665%	1,505
Remaining individualsnot grpmax-eligible	0.0631%	1,585
Admixed American	0.00957%	10,450
African / African-American	0.00819%	12,204
South Asian	0.00354%	28,258
Ashkenazi Jewishnot grpmax-eligible	0.00349%	28,652
East Asian	0.00242%	41,342

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.Phe119=
Coding: c.357C>T
MANE Select: NM_001672
Type: single nucleotide variant
Location: chr20:34269125 (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-phe119 (accessed [today's date]).

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