ADD1 p.Asp279=
c.837T>C · rs144809220 · VCV790309
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.478%, mid)
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 -3.2 | GERP -1.5 |
| Overall | ||
| CADD | 6.054 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.478%
Middle Eastern · 29/6,062 alleles
Filtering AF
0.342%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.296%
Overall
0.074%
1,194/1,614,172 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.478% | 209 |
| Admixed American | 0.325% | 308 |
| Remaining individualsnot grpmax-eligible | 0.218% | 460 |
| South Asian | 0.0944% | 1,059 |
| African / African-American | 0.092% | 1,087 |
| European (non-Finnish) | 0.0556% | 1,799 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0338% | 2,961 |
| East Asian | 0.0201% | 4,987 |
| Finnishnot grpmax-eligible | 0.00625% | 16,007 |
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
- ADD1
- Protein
- p.Asp279=
- Coding
- c.837T>C
- MANE Select
- NM_001354761
- dbSNP
- rs144809220
- Type
- single nucleotide variant
- Location
- chr4:2898279 (GRCh38)
- Gene constraint
- LOEUF 0.387 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 65.73
Similar variants
- ADD1 p.Val234= Benign ★★ same type
- ADD1 p.Val559Met Benign ★★ same type
- ADD1 c.2047+530G>A Uncertain significance ★ same type
- ADD1 c.2047+541G>T Uncertain significance ★ same type
- ADD1 p.Ala137Val Uncertain significance ★ ⚠ same type
- ADD1 p.Ala151Thr Uncertain significance ★ ⚠ same type
- ADD1 p.Ala156Thr Uncertain significance ★ ⚠ same type
- ADD1 p.Ala18Thr 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/add1-p-asp279 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown