Is FSHR p.Ser201= (c.603C>T) pathogenic?

FSHR p.Ser201= (c.603C>T) is classified Benign/Likely benign in FSHR (ClinVar, Multiple submitters, 5 submitters; last evaluated 2020-10-06). Low-frequency (popmax 2.69%, afr); Associated with ovarian dysgenesis 1.

What condition is associated with FSHR p.Ser201= (c.603C>T)?

FSHR p.Ser201= (c.603C>T) is associated with ovarian dysgenesis 1, ovarian hyperstimulation syndrome (ClinVar).

How common is FSHR p.Ser201= (c.603C>T) in the general population?

FSHR p.Ser201= (c.603C>T) is low-frequency (popmax 2.69%, afr) (gnomAD).

FSHR p.Ser201=

c.603C>T · rs75552966 · VCV336488

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 5 submitters

gnomAD v4.1

Rare

low-frequency (popmax 2.69%, afr)

Conditions

ovarian dysgenesis 1

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 -0.21	GERP -4.8, phastCons 0.001
Overall
CADD	8.339	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 2.69% African / African-American · 2,021/75,006 alleles

Filtering AF 2.6% ClinGen BA1/BS1 input FAF95, joint · FAF99 2.56%

Overall 0.459% 7,406/1,613,690 alleles · low-frequency exomes 5,927/1,461,472 · genomes 1,479/152,218 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	2.69%	37
Remaining individualsnot grpmax-eligible	0.435%	230
European (non-Finnish)	0.401%	250
Finnishnot grpmax-eligible	0.216%	464
Admixed American	0.197%	509
South Asian	0.12%	835
Middle Eastern	0.066%	1,516
East Asian	0.0357%	2,804
Ashkenazi Jewishnot grpmax-eligible	0.00338%	29,598

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.Ser201=
Coding: c.603C>T
MANE Select: NM_000145
dbSNP: rs75552966
Type: single nucleotide variant
Location: chr2:48982977 (GRCh38)
Gene constraint: LOEUF 1.071 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 81.87 · 5 PDB

Full FSHR gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

ovarian dysgenesis 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: ovarian hyperstimulation syndrome

Similar variants

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
FSHR p.Lys133= Uncertain significance ★★ same condition
FSHR p.Met532Ile 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-ser201 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown