Is BBS10 p.Ser3fs (c.9_15delinsGC) pathogenic?

BBS10 p.Ser3fs (c.915delinsGC) is classified Pathogenic/Likely pathogenic in BBS10 (ClinVar, Multiple submitters, 7 submitters; last evaluated 2025-12-15). No gnomAD frequency available for this variant; Associated with Bardet-Biedl syndrome.

What condition is associated with BBS10 p.Ser3fs (c.9_15delinsGC)?

BBS10 p.Ser3fs (c.9_15delinsGC) is associated with Bardet-Biedl syndrome, Bardet-Biedl syndrome 10 (ClinVar).

How common is BBS10 p.Ser3fs (c.9_15delinsGC) in the general population?

BBS10 p.Ser3fs (c.9_15delinsGC) 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.Ser3fs

c.9_15delinsGC · rs2136091654 · VCV1179122

Pathogenic/Likely pathogenic Multiple submitters

Classification

Pathogenic/Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 7 submitters

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	predicted	premature termination codon in exon 1 of 2
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.5	GERP 1.8, 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: BBS10
Protein: p.Ser3fs
Coding: c.9_15delinsGC
MANE Select: NM_024685
dbSNP: rs2136091654
Type: Indel
Location: chr12:76348344 (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

Also linked: Bardet-Biedl syndrome 10

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.Ser3_Met5delinsArg Conflicting classifications of pathogenicity ★ same residue
BBS10 p.Ser3Arg Uncertain significance ★ ⚠ same residue
BBS10 p.Ala8fs Likely pathogenic ★ same condition
BBS10 p.Val214fs Likely pathogenic ★ same condition
BBS10 p.Asp497fs Likely pathogenic same condition
BBS10 c.197+1G>T Pathogenic/Likely pathogenic ★★ same condition
BBS10 p.Ala14fs Pathogenic ★★ same condition
BBS10 p.Arg163fs 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-ser3fs (accessed [today's date]).

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