FSHR p.Met1Ile
c.3G>A · rs2465680218 · VCV2672813
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
start-loss
predicted LoF
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | start-loss | predicted loss-of-function |
|---|---|---|
| REVEL | 0.386 | indeterminate |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 7.5 | GERP 2, phastCons 1 |
| Overall | ||
| CADD | 21.3 | PHRED · no single calibrated threshold — expert panels disagree |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- FSHR
- Protein
- p.Met1Ile
- Coding
- c.3G>A
- MANE Select
- NM_000145
- dbSNP
- rs2465680218
- Type
- single nucleotide variant
- Location
- chr2:49154415 (GRCh38)
- Gene constraint
- LOEUF 1.071 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.87 · 5 PDB
Similar variants
- FSHR p.Met1Thr Pathogenic ★ same residue
- FSHR p.Arg229Gly Uncertain significance ★★ ⚠ same type
- FSHR p.Arg557Trp Uncertain significance ★★ ⚠ same type
- FSHR p.Asp358Val Uncertain significance ★★ ⚠ same type
- FSHR p.Glu300Lys Uncertain significance ★★ ⚠ same type
- FSHR p.Glu319Gly Uncertain significance ★★ ⚠ same type
- FSHR p.Ile230Val Uncertain significance ★★ ⚠ same type
- FSHR p.Ile382Thr 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/fshr-p-met1ile (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown