Is UNC80 p.Pro3206fs (c.9612_9615dup) pathogenic?

UNC80 p.Pro3206fs (c.96129615dup) is classified Pathogenic in UNC80 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-08-27). No gnomAD frequency available for this variant.

How common is UNC80 p.Pro3206fs (c.9612_9615dup) in the general population?

UNC80 p.Pro3206fs (c.9612_9615dup) is no gnomAD frequency available for this variant (gnomAD).

UNC80 p.Pro3206fs

c.9612_9615dup · rs2471268382 · VCV2027133

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 64 of 65
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.78	GERP -1.1, 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: UNC80
Protein: p.Pro3206fs
Coding: c.9612_9615dup
MANE Select: NM_001371986
dbSNP: rs2471268382
Type: Duplication
Location: chr2:209994165 (GRCh38)
Gene constraint: LOEUF 0.48 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Residue 3206: the 'disordered' region

Full UNC80 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

UNC80 p.Pro3206Ser Uncertain significance ★★ ⚠ same residue
UNC80 c.7050+27dup Benign/Likely benign ★★ same type
UNC80 p.Arg1312fs Pathogenic ★ same type
UNC80 p.Glu1887fs Pathogenic ★ same type
UNC80 p.Glu410fs Pathogenic ★ same type
UNC80 p.Leu2595fs Pathogenic ★ same type
UNC80 p.Thr3029fs Pathogenic ★ same type
UNC80 p.Tyr2981fs 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/unc80-p-pro3206fs (accessed [today's date]).

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