Is BBS10 p.Arg34= (c.102G>T) pathogenic?

BBS10 p.Arg34= (c.102G>T) is classified Likely benign in BBS10 (ClinVar, Multiple submitters, 4 submitters; last evaluated 2025-12-03). Ultra-rare (popmax 0.0374%, afr); Associated with Bardet-Biedl syndrome 10.

What condition is associated with BBS10 p.Arg34= (c.102G>T)?

BBS10 p.Arg34= (c.102G>T) is associated with Bardet-Biedl syndrome 10, Bardet-Biedl syndrome (ClinVar).

How common is BBS10 p.Arg34= (c.102G>T) in the general population?

BBS10 p.Arg34= (c.102G>T) is ultra-rare (popmax 0.0374%, afr) (gnomAD).

How is Bardet-Biedl syndrome inherited?

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

BBS10 p.Arg34=

c.102G>T · rs376601112 · VCV701364

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 4 submitters

gnomAD v4.1

Rare

ultra-rare (popmax 0.0374%, afr)

Conditions

Bardet-Biedl syndrome 10

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -0.09	GERP -3.3, phastCons 0.39
Overall
CADD	11.06	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0374% African / African-American · 28/74,918 alleles

Filtering AF 0.0265% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0229%

Overall 0.0018% 29/1,613,356 alleles · ultra-rare exomes 10/1,461,160 · genomes 19/152,196 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.0374%	2,676
European (non-Finnish)	8.48e-05%	1,179,692

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: BBS10
Protein: p.Arg34=
Coding: c.102G>T
MANE Select: NM_024685
dbSNP: rs376601112
Type: single nucleotide variant
Location: chr12:76348257 (GRCh38)
Gene constraint: LOEUF 1.418 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 71.26
Residue 34: a UniProt-annotated variant site (in bbs10; has moderately reduced ability to interact with bbs7 and bbs9)

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

Also linked: Bardet-Biedl syndrome

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.Arg34Pro Likely pathogenic ★ same residue
BBS10 c.197+1G>T Pathogenic/Likely pathogenic ★★ same condition
BBS10 p.Arg256Ter Pathogenic ★★ same condition
BBS10 p.Arg49Leu Likely pathogenic ★★ ⚠ same condition
BBS10 p.Arg49Trp Pathogenic/Likely pathogenic ★★ ⚠ same condition
BBS10 p.Cys28Ter Pathogenic/Likely pathogenic ★★ same condition
BBS10 p.Cys91Trp Pathogenic ★★ ⚠ same condition
BBS10 p.Gln137Ter 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-arg34 (accessed [today's date]).

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