Is BFSP1 p.Gln71= (c.213G>A) pathogenic?

BFSP1 p.Gln71= (c.213G>A) is classified Likely benign in BFSP1 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-10-03). Very rare (popmax 9.54e-05%, nfe); Associated with cataract 33.

What condition is associated with BFSP1 p.Gln71= (c.213G>A)?

BFSP1 p.Gln71= (c.213G>A) is associated with cataract 33 (ClinVar).

How common is BFSP1 p.Gln71= (c.213G>A) in the general population?

BFSP1 p.Gln71= (c.213G>A) is very rare (popmax 9.54e-05%, nfe) (gnomAD).

BFSP1 p.Gln71=

c.213G>A · VCV4728444

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 9.54e-05%, nfe)

Conditions

cataract 33

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 2.5	GERP 0.41, phastCons 1
Overall
CADD	13.65	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 9.54e-05% European (non-Finnish) · 1/1,048,022 alleles

Overall 7.47e-05% 1/1,338,468 alleles · very rare exomes 1/1,186,410 · genomes 0/152,058 · joint denominator

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: BFSP1
Protein: p.Gln71=
Coding: c.213G>A
MANE Select: NM_001195
Type: single nucleotide variant
Location: chr20:17531117 (GRCh38)
Gene constraint: LOEUF 1.371 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 64.66
Residue 71: the if rod domain; the 'coil 1a' region

Full BFSP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

cataract 33 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

BFSP1 p.Gln71Pro Uncertain significance ★ ⚠ same residue
BFSP1 p.Ala643Thr Uncertain significance ★★ ⚠ same condition
BFSP1 p.Arg560Cys Uncertain significance ★★ ⚠ same condition
BFSP1 p.Arg69Trp Uncertain significance ★★ same condition
BFSP1 p.Asp19Asn Uncertain significance ★★ ⚠ same condition
BFSP1 p.Gln294Arg Uncertain significance ★★ ⚠ same condition
BFSP1 p.Gly46Trp Uncertain significance ★★ ⚠ same condition
BFSP1 p.Ile271Thr 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/bfsp1-p-gln71 (accessed [today's date]).

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