RNF17

Chr 13

ring finger protein 17

Also known as: Mmip-2, SPATA23, TDRD4

NCBI Gene: 56163 ENSG00000132972 UniProt: Q9BXT8 OMIM: 605793

RNF17 encodes a RING finger domain-containing protein that regulates MYC transcriptional activity and can sequester Mad transcriptional repressors to the cytoplasm. The gene is extremely intolerant to loss-of-function variants (pLI >0.99, LOEUF 0.089), but no definitive human disease associations have been established in the current literature.

OMIM ResearchSummary from RefSeq, UniProt

This gene is similar to a mouse gene that encodes a testis-specific protein containing a RING finger domain. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, May 2010]

OMIM ResearchGenerating clinical summary…

LOEUF 0.09

Clinical Summary— RNF17

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

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ClinVar Variants

23 unique Pathogenic / Likely Pathogenic· 231 VUS of 394 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.09LOEUF

pLI 1.000

Z-score 8.37

OE 0.03 (0.01–0.09)

Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?

1.77Z-score

OE missense 0.83 (0.78–0.88)

679 obs / 822.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.03 (0.01–0.09)

0≤0.351.4

Missense OE?0.83 (0.78–0.88)

0≤0.61.4

Synonymous OE?0.93

0≤1.21.6

LoF obs/exp: 3 / 87.5Missense obs/exp: 679 / 822.0Syn Z: 0.99

ClinVar Variant Classifications

394 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic13

Likely Pathogenic10

VUS231

Likely Benign73

Benign33

Conflicting15

Pathogenic

Likely Pathogenic

231

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	10	3	0	0	13
Likely Pathogenic	9	1	0	0	10
VUS	5	204	22	0	231
Likely Benign	0	13	33	27	73
Benign	0	5	26	2	33
Conflicting	—				15
Total	24	226	81	29	375

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

View in ClinVar →

36 pathogenic / likely-pathogenic (of 51) ClinVar copy-number / structural variants overlap RNF17 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →