FSHR p.Lys104=
c.312G>A · rs147355964 · VCV290278
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.056%, afr)
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 -0.11 | GERP -0.13, phastCons 0.53 |
| Overall | ||
| CADD | 6.891 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.056%
African / African-American · 42/74,948 alleles
Filtering AF
0.0425%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0379%
Overall
0.00273%
44/1,612,920 alleles · ultra-rare
exomes 19/1,460,746 · genomes 25/152,174 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.056% | 1,784 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,221 |
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
- FSHR
- Protein
- p.Lys104=
- Coding
- c.312G>A
- MANE Select
- NM_000145
- dbSNP
- rs147355964
- Type
- single nucleotide variant
- Location
- chr2:49017551 (GRCh38)
- Gene constraint
- LOEUF 1.071 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.87 · 5 PDB
- Residue 104
- a β-strand
Similar variants
- 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
- FSHR p.Lys133= 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-lys104 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown