PDCD10 p.Arg2=
c.6G>A · VCV4627170
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.0011%, sas)
Conditions
1
Inborn genetic diseases
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 7.7 | GERP 2.9, phastCons 1 |
| Overall | ||
| CADD | 14.87 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0011%
South Asian · 1/90,968 alleles
Overall
0.000124%
2/1,610,134 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0011% | 90,968 |
| European (non-Finnish) | 8.5e-05% | 1,176,792 |
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
- PDCD10
- Protein
- p.Arg2=
- Coding
- c.6G>A
- MANE Select
- NM_007217
- Type
- single nucleotide variant
- Location
- chr3:167720152 (GRCh38)
- Gene constraint
- LOEUF 0.924 · pLI 0.64 (gnomAD)
- Structure
- AlphaFold pLDDT 90.82 · 10 PDB
Similar variants
- PDCD10 p.Asn104Ser Uncertain significance ★★ ⚠ same condition
- PDCD10 p.Leu44Arg Uncertain significance ★★ ⚠ same condition
- PDCD10 p.Phe76Val Uncertain significance ★★ ⚠ same condition
- PDCD10 p.Tyr27Cys Uncertain significance ★★ ⚠ same condition
- PDCD10 p.Ala46= Likely benign ★★ same condition
- PDCD10 p.Phe127= Likely benign ★★ same condition
- PDCD10 p.Val72Leu Benign/Likely benign ★★ same condition
- PDCD10 p.Asn156Lys 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/pdcd10-p-arg2 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown