FBXW10B

Chr 17

F-box and WD repeat domain containing 10B

Also known as: C170RF1, C17ORF1, C17ORF1A, CDRT1, FBXW10P1, HREP, SM25H2

NCBI Gene: 374286 ENSG00000241322 UniProt: O95170 OMIM: 604596

FBXW10B encodes an F-box protein that functions as part of SCF ubiquitin ligase complexes to target specific proteins for degradation. The gene is not constrained against loss-of-function variants and no definitive disease associations have been established in the provided data. Clinical significance of variants in this gene requires careful evaluation given the lack of established phenotypes.

OMIM ResearchSummary from RefSeq

Members of the F-box protein family, such as FBXW10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

OMIM ResearchGenerating clinical summary…

LOEUF 1.00

Clinical Summary— FBXW10B

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

5 VUS of 16 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.00LOEUF

pLI 0.000

Z-score 1.54

OE 0.72 (0.53–1.00)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.66Z-score

OE missense 0.91 (0.83–0.99)

373 obs / 410.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.72 (0.53–1.00)

0≤0.351.4

Missense OE?0.91 (0.83–0.99)

0≤0.61.4

Synonymous OE?0.92

0≤1.21.6

LoF obs/exp: 26 / 36.0Missense obs/exp: 373 / 410.5Syn Z: 0.82

ClinVar Variant Classifications

16 submitted variants in ClinVar

ClinVar

Classification Summary

VUS5

Likely Benign1

Benign2

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	5	0	5
Likely Benign	1	0	1
Benign	1	1	2
Total	7	1	8

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

51 pathogenic / likely-pathogenic (of 55) ClinVar copy-number / structural variants overlap FBXW10B — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →