C2 c.715+20T>C
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +20 | near-intronic (+20 nt from the splice site) |
|---|---|---|
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -0.24 | GERP -2.3 |
| Non-coding constraint | Z 3.99 | 1 kb window · o/e 0.74 · regional · uncalibrated |
| Overall | ||
| CADD | 1.787 | 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
- C2
- Coding
- c.715+20T>C
- MANE Select
- NM_000063
- Type
- single nucleotide variant
- Location
- chr6:31933985 (GRCh38)
- Gene constraint
- LOEUF 0.909 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.61 · 14 PDB
Similar variants
- C2 c.1902+5G>A Uncertain significance ★★ same type
- C2 c.2029+5G>A Uncertain significance ★★ same type
- C2 p.Ala363Thr Uncertain significance ★★ ⚠ same type
- C2 p.Ala682Glu Uncertain significance ★★ ⚠ same type
- C2 p.Arg124Gln Uncertain significance ★★ ⚠ same type
- C2 p.Arg129His Uncertain significance ★★ ⚠ same type
- C2 p.Arg174Cys Uncertain significance ★★ ⚠ same type
- C2 p.Arg176Cys 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/c2-c-715-plus-20t-c (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown