POF1B p.Ser37=
c.111C>T · rs767638131 · VCV2661005
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00358%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · G>C here scores Δ0.34 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.3 | GERP -2.4, phastCons 1 |
| Overall | ||
| CADD | 2.976 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00358%
European (non-Finnish) · 32/894,693 alleles
Filtering AF
0.00259%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00221%
Overall
0.00282%
34/1,207,559 alleles · very rare
exomes 30/1,097,696 · genomes 4/109,863 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00358% | 27,959 |
| Remaining individualsnot grpmax-eligible | 0.0021% | 47,528 |
| African / African-American | 0.00177% | 56,520 |
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
- POF1B
- Protein
- p.Ser37=
- Coding
- c.111C>T
- MANE Select
- NM_024921
- dbSNP
- rs767638131
- Type
- single nucleotide variant
- Location
- chrX:85379344 (GRCh38)
- Structure
- AlphaFold pLDDT 62.59 · 1 PDB
Similar variants
- POF1B p.Arg468= Uncertain significance ★★ same type
- POF1B p.Met320Ile Uncertain significance ★★ ⚠ same type
- POF1B c.1566+10G>A Benign ★★ same type
- POF1B c.1764+3A>G Benign ★★ same type
- POF1B c.*1019C>A Benign ★★ same type
- POF1B c.*268T>G Benign ★★ same type
- POF1B c.*312A>C Benign ★★ same type
- POF1B c.*313C>T Benign ★★ 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/pof1b-p-ser37 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown