SALL1 p.Ser595=
c.1785C>G · VCV4708617
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000509%, nfe)
Conditions
1
Townes-Brocks syndrome
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 -9.9 | GERP -4.1 |
| Overall | ||
| CADD | 0.004 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000509%
European (non-Finnish) · 6/1,179,850 alleles
Filtering AF
0.000183%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00012%
Overall
0.000372%
6/1,613,756 alleles · very rare
exomes 4/1,461,634 · genomes 2/152,122 · joint denominator
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
- SALL1
- Protein
- p.Ser595=
- Coding
- c.1785C>G
- MANE Select
- NM_002968
- Type
- single nucleotide variant
- Location
- chr16:51140437 (GRCh38)
- Gene constraint
- LOEUF 0.228 · pLI 1.00 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 49.54
- Residue 595
- the 'disordered' region; a modified residue (phosphoserine)
Similar variants
- SALL1 p.Ser595Phe Uncertain significance ★ ⚠ same residue
- SALL1 p.Arg1054Ter Pathogenic/Likely pathogenic ★★ same condition
- SALL1 p.Arg276Ter Pathogenic/Likely pathogenic ★★ same condition
- SALL1 p.Arg786Ter Pathogenic ★★ same condition
- SALL1 p.Gln272Ter Pathogenic ★★ same condition
- SALL1 p.Gln291Ter Pathogenic/Likely pathogenic ★★ same condition
- SALL1 p.Gln323Ter Pathogenic ★★ same condition
- SALL1 p.Ala369Val 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/sall1-p-ser595 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown