CD70 p.Cys115=
c.345C>T · rs1862511 · VCV2628186
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Common
common (popmax 68.6%, eas) — too common for a highly-penetrant pathogenic allele
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 1.9 | GERP 0.36, phastCons 1 |
| Overall | ||
| CADD | 6.986 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
68.6%
East Asian · 30,756/44,832 alleles
Filtering AF
68%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 67.7%
Overall
30%
484,618/1,613,640 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 68.6% | 1 |
| Finnishnot grpmax-eligible | 38.1% | 3 |
| Amishnot grpmax-eligible | 34.1% | 3 |
| South Asian | 34.1% | 3 |
| Remaining individualsnot grpmax-eligible | 30.9% | 3 |
| European (non-Finnish) | 28.9% | 3 |
| Middle Eastern | 26.9% | 4 |
| Ashkenazi Jewishnot grpmax-eligible | 25.1% | 4 |
| Admixed American | 22.7% | 4 |
| African / African-American | 19.6% | 5 |
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
- CD70
- Protein
- p.Cys115=
- Coding
- c.345C>T
- MANE Select
- NM_001252
- dbSNP
- rs1862511
- Type
- single nucleotide variant
- Location
- chr19:6586257 (GRCh38)
- Gene constraint
- LOEUF 1.251 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 83.52 · 1 PDB
- Residue 115
- the thd domain; a disulfide bond
Similar variants
- CD70 p.Leu23Phe Uncertain significance ★★ ⚠ same type
- CD70 p.Ser146Ile Uncertain significance ★★ same type
- CD70 p.Ser9Leu Uncertain significance ★★ ⚠ same type
- CD70 p.Thr118Met Uncertain significance ★★ ⚠ same type
- CD70 p.Thr119Met Uncertain significance ★★ ⚠ same type
- CD70 p.Val130Met Uncertain significance ★★ ⚠ same type
- CD70 p.Gly16= Likely benign ★★ same type
- CD70 p.Ser141= Likely benign ★★ 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/cd70-p-cys115 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown