ASCC1 p.Tyr348Asp
c.1042T>G · VCV3951636
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.813 | moderately pathogenic-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 2.7, phastCons 1 |
| Regional constraint | o/e 0.88 | unconstrained · MANE · 116 kb · p 0.011 · regional, not allelic |
| Overall | ||
| CADD | 28.1 | 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
- ASCC1
- Protein
- p.Tyr348Asp
- Coding
- c.1042T>G
- MANE Select
- NM_001198800
- Type
- single nucleotide variant
- Location
- chr10:72097366 (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.Tyr348= Benign/Likely benign ★★ same residue
- ASCC1 p.Ala300Val Uncertain significance ★★ ⚠ same condition
- ASCC1 p.Arg14Gln Uncertain significance ★★ ⚠ same condition
- ASCC1 p.Arg77Ile Uncertain significance ★★ ⚠ same condition
- ASCC1 p.Gln131His Uncertain significance ★★ ⚠ same condition
- ASCC1 p.Gln24Arg Uncertain significance ★★ ⚠ same condition
- ASCC1 p.Glu102Lys Uncertain significance ★★ ⚠ same condition
- ASCC1 p.Gly302Ser Uncertain significance ★★ ⚠ same 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/ascc1-p-tyr348asp (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown