Is F11 p.Cys327fs (c.979del) pathogenic?

F11 p.Cys327fs (c.979del) is classified Pathogenic in F11 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-03-21). No gnomAD frequency available for this variant.

How common is F11 p.Cys327fs (c.979del) in the general population?

F11 p.Cys327fs (c.979del) is no gnomAD frequency available for this variant (gnomAD).

F11 p.Cys327fs

c.979del · rs2477330146 · VCV2848145

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 9 of 15
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.69	GERP -0.6, 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: F11
Protein: p.Cys327fs
Coding: c.979del
MANE Select: NM_000128
dbSNP: rs2477330146
Type: Deletion
Location: chr4:186280336 (GRCh38)
Gene constraint: LOEUF 1.145 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 86.94 · 117 PDB
Residue 327: a disulfide bond; the apple 4 domain

Full F11 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

F11 p.Cys327Ter Pathogenic/Likely pathogenic ★★ same residue
F11 c.1136-7_1136-4del Pathogenic ★★ same type
F11 p.Gly303fs Pathogenic ★★ same type
F11 p.Ile215_Asp216del Pathogenic/Likely pathogenic ★★ same type
F11 p.Ile359fs Pathogenic ★★ same type
F11 p.Ile481fs Pathogenic ★★ same type
F11 p.Leu442fs Pathogenic ★★ same type
F11 p.Leu483fs Pathogenic/Likely 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/f11-p-cys327fs (accessed [today's date]).

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