Is FLNB p.Arg699= (c.2097G>C) pathogenic?

FLNB p.Arg699= (c.2097G>C) is classified Uncertain significance in FLNB (ClinVar, Single submitter, 1 submitter; last evaluated 2018-01-12). Absent from gnomAD v4.1; Associated with FLNB-Related Spectrum Disorders.

What condition is associated with FLNB p.Arg699= (c.2097G>C)?

FLNB p.Arg699= (c.2097G>C) is associated with FLNB-Related Spectrum Disorders (ClinVar).

How common is FLNB p.Arg699= (c.2097G>C) in the general population?

FLNB p.Arg699= (c.2097G>C) is absent from gnomAD v4.1 (gnomAD).

FLNB p.Arg699=

c.2097G>C · rs886058762 · VCV346319

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

FLNB-Related Spectrum Disorders

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 0.3	GERP -4.3, phastCons 0.94
Overall
CADD	7.507	PHRED · no single calibrated threshold — expert panels disagree

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: FLNB
Protein: p.Arg699=
Coding: c.2097G>C
MANE Select: NM_001457
dbSNP: rs886058762
Type: single nucleotide variant
Location: chr3:58109220 (GRCh38)
Gene constraint: LOEUF 0.504 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 76.96 · 23 PDB

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

Disease context

FLNB-Related Spectrum Disorders

Similar variants

FLNB p.Arg699Gln Conflicting classifications of pathogenicity ★ ⚠ same residue
FLNB p.Arg699Pro Uncertain significance ★ same residue
FLNB p.Arg699Trp Conflicting classifications of pathogenicity ★ ⚠ same residue
FLNB p.Glu1661Lys Uncertain significance ★★ ⚠ same condition
FLNB p.Glu78Gly Uncertain significance ★★ ⚠ same condition
FLNB p.His1117Arg Uncertain significance ★★ ⚠ same condition
FLNB p.Leu1440Pro Uncertain significance ★★ ⚠ same condition
FLNB p.Pro396Ser 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/flnb-p-arg699 (accessed [today's date]).

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