HSD11B2 p.Ser70=
c.210C>T · rs2040932930 · VCV3002002
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,386,342)
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 2.6 | GERP 0.11, phastCons 1 |
| Overall | ||
| CADD | 18.25 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,386,342). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- HSD11B2
- Protein
- p.Ser70=
- Coding
- c.210C>T
- MANE Select
- NM_000196
- dbSNP
- rs2040932930
- Type
- single nucleotide variant
- Location
- chr16:67431458 (GRCh38)
- Gene constraint
- LOEUF 1.204 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 87.49
Similar variants
- HSD11B2 p.Ala328Val Likely pathogenic ★★ same type
- HSD11B2 p.Arg208His Pathogenic/Likely pathogenic ★★ same type
- HSD11B2 c.664+14C>T Uncertain significance ★★ same type
- HSD11B2 c.802+5G>C Uncertain significance ★★ same type
- HSD11B2 p.Ala196Thr Uncertain significance ★★ ⚠ same type
- HSD11B2 p.Ala19Val Uncertain significance ★★ ⚠ same type
- HSD11B2 p.Ala389Thr Uncertain significance ★★ ⚠ same type
- HSD11B2 p.Arg147His 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/hsd11b2-p-ser70 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown