Is BBS10 p.Pro353fs (c.1056del) pathogenic?

BBS10 p.Pro353fs (c.1056del) is classified Likely pathogenic in BBS10 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2016-03-08). No gnomAD frequency available for this variant; Associated with Bardet-Biedl syndrome 10.

What condition is associated with BBS10 p.Pro353fs (c.1056del)?

BBS10 p.Pro353fs (c.1056del) is associated with Bardet-Biedl syndrome 10 (ClinVar).

How common is BBS10 p.Pro353fs (c.1056del) in the general population?

BBS10 p.Pro353fs (c.1056del) 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.Pro353fs

c.1056del · rs1057516623 · VCV370605

Likely pathogenic No assertion criteria

Classification

Likely pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Bardet-Biedl syndrome 10

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 0.64	GERP -3.2

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.Pro353fs
Coding: c.1056del
MANE Select: NM_024685
dbSNP: rs1057516623
Type: Deletion
Location: chr12:76346929 (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 10 — 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.Ala14fs Pathogenic ★★ same condition
BBS10 p.Arg467fs Pathogenic/Likely pathogenic ★★ same condition
BBS10 p.Asn364fs Pathogenic ★★ same condition
BBS10 p.Asn605fs Pathogenic/Likely pathogenic ★★ same condition
BBS10 p.Asp412fs Pathogenic/Likely pathogenic ★★ same condition
BBS10 p.Asp515fs Pathogenic/Likely pathogenic ★★ same condition
BBS10 p.Gln114fs Pathogenic/Likely pathogenic ★★ same condition
BBS10 p.Gln131fs 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-pro353fs (accessed [today's date]).

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