Is BBS10 p.Ile447fs (c.1338dup) pathogenic?

BBS10 p.Ile447fs (c.1338dup) is classified Pathogenic in BBS10 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-12-22). No gnomAD frequency available for this variant; Associated with Bardet-Biedl syndrome.

What condition is associated with BBS10 p.Ile447fs (c.1338dup)?

BBS10 p.Ile447fs (c.1338dup) is associated with Bardet-Biedl syndrome (ClinVar).

How common is BBS10 p.Ile447fs (c.1338dup) in the general population?

BBS10 p.Ile447fs (c.1338dup) is no gnomAD frequency available for this variant (gnomAD).

How is Bardet-Biedl syndrome inherited?

Typically Autosomal recessive, Oligogenic (Orphanet). A genetic counselor can assess individual risk for a family.

BBS10 p.Ile447fs

c.1338dup · rs1389599028 · VCV2823180

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

Conditions

Bardet-Biedl syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	escapes	premature termination codon in the last exon (2 of 2) — the truncated protein is likely expressed. PVS1 input, not an applied code
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.14	GERP 0.35, phastCons 0.001

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: BBS10
Protein: p.Ile447fs
Coding: c.1338dup
MANE Select: NM_024685
dbSNP: rs1389599028
Type: Duplication
Location: chr12:76346646 (GRCh38)
Gene constraint: LOEUF 1.418 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 71.26

Full BBS10 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Bardet-Biedl syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Bardet-Biedl syndrome (Orphanet):

Inheritance: Autosomal recessive, Oligogenic
Onset: Antenatal, Childhood, Infancy, Neonatal
Prevalence: 1-9 / 100 000 (Specific population)

Similar variants

BBS10 p.Ile447Val Uncertain significance ★★ ⚠ same residue
BBS10 p.Asn122fs Pathogenic/Likely pathogenic ★★ same condition
BBS10 p.Asn605Ter Pathogenic/Likely pathogenic ★★ same condition
BBS10 p.Asp216fs Pathogenic/Likely pathogenic ★★ same condition
BBS10 p.Cys91fs Pathogenic ★★ same condition
BBS10 p.Glu61fs Pathogenic ★★ same condition
BBS10 p.His395fs Pathogenic/Likely pathogenic ★★ same condition
BBS10 p.Ile342fs Pathogenic/Likely pathogenic ★★ 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/bbs10-p-ile447fs (accessed [today's date]).

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