Is FLNB p.Lys16fs (c.44dup) pathogenic?

FLNB p.Lys16fs (c.44dup) is classified Pathogenic in FLNB (ClinVar, Single submitter, 1 submitter; last evaluated 2022-12-12). Absent from gnomAD.

How common is FLNB p.Lys16fs (c.44dup) in the general population?

FLNB p.Lys16fs (c.44dup) is absent from gnomAD (gnomAD).

FLNB p.Lys16fs

c.44dup · rs2477192770 · VCV2818577

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 1 of 46
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 9.4	GERP 1.4, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: FLNB
Protein: p.Lys16fs
Coding: c.44dup
MANE Select: NM_001457
dbSNP: rs2477192770
Type: Duplication
Location: chr3:58008606 (GRCh38)
Gene constraint: LOEUF 0.504 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 76.96 · 23 PDB
Residue 16: the calponin-homology (ch) 1 domain; an α-helix; the 'actin-binding' region

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

Similar variants

FLNB p.Ala971fs Pathogenic/Likely pathogenic ★★ same type
FLNB p.His532fs Pathogenic/Likely pathogenic ★★ same type
FLNB p.Ser581fs Pathogenic ★★ same type
FLNB p.Val1195fs Pathogenic/Likely pathogenic ★★ same type
FLNB p.Asp1781fs Likely pathogenic ★ same type
FLNB p.Gln2160fs Pathogenic ★ same type
FLNB p.Glu1708fs Pathogenic ★ same type
FLNB p.Lys31fs Pathogenic ★ 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/flnb-p-lys16fs (accessed [today's date]).

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