MOCS2 p.Ser8=
c.24C>T · rs546177852 · VCV2230538
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.0022%, sas)
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.211 | benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
| Constraint at this position | ||
| Conservation | phyloP 9.7 | GERP 1.5, phastCons 1 |
| Overall | ||
| CADD | 13.02 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0022%
South Asian · 2/91,080 alleles
Filtering AF
0.000365%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000137%
Overall
0.000248%
4/1,614,066 alleles · very rare
exomes 3/1,461,838 · genomes 1/152,228 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0022% | 45,540 |
| Admixed American | 0.00167% | 60,018 |
| European (non-Finnish) | 8.47e-05% | 1,179,980 |
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
- MOCS2
- Protein
- p.Ser8=
- Coding
- c.24C>T
- MANE Select
- NM_004531
- dbSNP
- rs546177852
- Type
- single nucleotide variant
- Location
- chr5:53107151 (GRCh38)
- Gene constraint
- LOEUF 1.066 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.07 · 2 PDB
- Residue 8
- a β-strand; a UniProt-annotated variant site (in mocodb1)
Similar variants
- MOCS2 p.Ala49Gly Uncertain significance ★★ same condition
- MOCS2 p.Arg60His Uncertain significance ★★ same condition
- MOCS2 p.Asn81Tyr Uncertain significance ★★ ⚠ same condition
- MOCS2 p.Thr175Ala Uncertain significance ★★ ⚠ same condition
- MOCS2 p.Thr19Arg Uncertain significance ★★ same condition
- MOCS2 p.Pro22Leu Likely benign ★★ same condition
- MOCS2 p.Ser9Leu Likely benign ★★ same condition
- MOCS2 p.Thr15Met Likely benign ★★ 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/mocs2-p-ser8 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown