ASCC1 p.Tyr348=
c.1044C>T · rs146138639 · VCV720317
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
rare (popmax 0.337%, 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 -3.1 | GERP -5.4 |
| Overall | ||
| CADD | 3.386 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.337%
African / African-American · 253/75,032 alleles
Filtering AF
0.303%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.29%
Overall
0.0232%
374/1,613,400 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.337% | 297 |
| East Asian | 0.0736% | 1,360 |
| Admixed American | 0.0433% | 2,309 |
| Middle Eastern | 0.033% | 3,029 |
| Remaining individualsnot grpmax-eligible | 0.0304% | 3,286 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0101% | 9,865 |
| European (non-Finnish) | 0.00314% | 31,876 |
| South Asian | 0.0011% | 91,068 |
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
- ASCC1
- Protein
- p.Tyr348=
- Coding
- c.1044C>T
- MANE Select
- NM_001198800
- dbSNP
- rs146138639
- Type
- single nucleotide variant
- Location
- chr10:72097364 (GRCh38)
- Gene constraint
- LOEUF 1.002 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 65.70 · 1 PDB
- Residue 348
- an α-helix
Similar variants
- ASCC1 p.Tyr348Asp Uncertain significance ★ same residue
- ASCC1 c.311-2A>G Pathogenic ★★ same type
- ASCC1 c.626+1G>A Pathogenic/Likely pathogenic ★★ same type
- ASCC1 c.871+1G>A Pathogenic/Likely pathogenic ★★ same type
- ASCC1 p.Arg110Ter Pathogenic ★★ same type
- ASCC1 p.Arg117Ter Pathogenic ★★ same type
- ASCC1 p.Arg128Ter Pathogenic ★★ same type
- ASCC1 p.Gln195Ter Pathogenic/Likely pathogenic ★★ 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/ascc1-p-tyr348 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown