TIPARP p.Arg523=
c.1567A>C · rs145937401 · VCV708663
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.41%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.14 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 5 | phastCons 1 |
| Overall | ||
| CADD | 7.828 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.41%
African / African-American · 1,056/75,052 alleles
Filtering AF
1.34%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.31%
Overall
0.0758%
1,223/1,614,198 alleles · low-frequency
exomes 629/1,461,834 · genomes 594/152,364 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.41% | 71 |
| Middle Eastern | 0.214% | 466 |
| Remaining individualsnot grpmax-eligible | 0.115% | 868 |
| Admixed American | 0.085% | 1,177 |
| South Asian | 0.00659% | 15,179 |
| European (non-Finnish) | 0.00212% | 47,201 |
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
- TIPARP
- Protein
- p.Arg523=
- Coding
- c.1567A>C
- MANE Select
- NM_015508
- dbSNP
- rs145937401
- Type
- single nucleotide variant
- Location
- chr3:156704724 (GRCh38)
- Gene constraint
- LOEUF 0.346 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 70.00
- Residue 523
- the parp catalytic domain
Similar variants
- TIPARP p.Ala124Val Uncertain significance ★ ⚠ same type
- TIPARP p.Arg133Leu Uncertain significance ★ ⚠ same type
- TIPARP p.Arg272Gly Uncertain significance ★ ⚠ same type
- TIPARP p.Arg28Lys Uncertain significance ★ ⚠ same type
- TIPARP p.Arg366Gln Uncertain significance ★ ⚠ same type
- TIPARP p.Arg374Trp Uncertain significance ★ ⚠ same type
- TIPARP p.Arg396Lys Uncertain significance ★ ⚠ same type
- TIPARP p.Arg406His 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/tiparp-p-arg523 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown