RNASEK-C17ORF49

Chr 17

RNASEK-C17orf49 readthrough

Also known as: BAP18, C17orf49

NCBI Gene: 100529209 ENSG00000161939

This locus represents naturally occurring read-through transcription between the neighboring RNASEK (ribonuclease, RNase K) and C17orf49 (chromosome 17 open reading frame 49) genes. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is unlikely to produce a protein product. [provided by RefSeq, Jan 2011]

Research

ResearchGenerating clinical summary…

LOEUF 0.71

Clinical Summary— RNASEK-C17ORF49

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.27) despite low pLI — interpret in context.

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ClinVar Variants

21 VUS of 26 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?

0.71LOEUF

pLI 0.191

Z-score 2.23

OE 0.27 (0.12–0.71)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.47Z-score

OE missense 0.89 (0.76–1.03)

119 obs / 134.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.27 (0.12–0.71)

0≤0.351.4

Missense OE?0.89 (0.76–1.03)

0≤0.61.4

Synonymous OE?0.83

0≤1.21.6

LoF obs/exp: 3 / 10.9Missense obs/exp: 119 / 134.4Syn Z: 0.96

ClinVar Variant Classifications

26 submitted variants in ClinVar

ClinVar

Classification Summary

VUS21

Likely Benign1

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	11	10	0	21
Likely Benign	0	0	1	1
Benign	0	0	0	0
Total	11	10	1	22

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

View in ClinVar →

9 pathogenic / likely-pathogenic (of 11) ClinVar copy-number / structural variants overlap RNASEK-C17ORF49 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →