ANKRD35 p.Ser295=
c.885G>A · VCV3916619
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00446%, eas)
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 -0.26 | GERP -1.4, phastCons 0.001 |
| Overall | ||
| CADD | 2.278 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00446%
East Asian · 2/44,886 alleles
Filtering AF
0.00143%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000891%
Overall
0.00124%
20/1,614,138 alleles · very rare
exomes 17/1,461,802 · genomes 3/152,336 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.00446% | 22,443 |
| South Asian | 0.00439% | 22,766 |
| African / African-American | 0.004% | 25,022 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,508 |
| Finnishnot grpmax-eligible | 0.00156% | 64,026 |
| European (non-Finnish) | 0.000763% | 131,112 |
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
- ANKRD35
- Protein
- p.Ser295=
- Coding
- c.885G>A
- MANE Select
- NM_144698
- Type
- single nucleotide variant
- Location
- chr1:145873884 (GRCh38)
- Gene constraint
- LOEUF 1.071 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 66.43
- Residue 295
- the 'disordered' region
Similar variants
- ANKRD35 p.Ser295Leu Uncertain significance ★ ⚠ same residue
- ANKRD35 p.Ala133Val Uncertain significance ★ ⚠ same type
- ANKRD35 p.Ala144Thr Uncertain significance ★ ⚠ same type
- ANKRD35 p.Ala202Gly Uncertain significance ★ same type
- ANKRD35 p.Ala212Thr Uncertain significance ★ ⚠ same type
- ANKRD35 p.Ala241Ser Uncertain significance ★ ⚠ same type
- ANKRD35 p.Ala480Ser Uncertain significance ★ ⚠ same type
- ANKRD35 p.Ala486Glu 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/ankrd35-p-ser295 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown