FSHR p.Ala189fs
c.564_565del · VCV3381984
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
ovarian dysgenesis 1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 7 of 10 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 2.9, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- FSHR
- Protein
- p.Ala189fs
- Coding
- c.564_565del
- MANE Select
- NM_000145
- Type
- Microsatellite
- Location
- chr2:48983126 (GRCh38)
- Gene constraint
- LOEUF 1.071 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.87 · 5 PDB
- Residue 189
- a UniProt-annotated variant site (in odg1; very frequent in the finnish population); a turn
Similar variants
- FSHR p.Ala189Val Pathogenic ★ ⚠ same residue
- FSHR p.Phe170fs Pathogenic/Likely pathogenic ★★ same condition
- FSHR p.Arg229Gly Uncertain significance ★★ ⚠ same condition
- FSHR p.Arg557Trp Uncertain significance ★★ ⚠ same condition
- FSHR p.Glu300Lys Uncertain significance ★★ ⚠ same condition
- FSHR p.Glu319Gly Uncertain significance ★★ ⚠ same condition
- FSHR p.Ile230Val Uncertain significance ★★ ⚠ same condition
- FSHR p.Ile382Thr 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/fshr-p-ala189fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown