NPHP3-ACAD11

Chr 3

NPHP3-ACAD11 readthrough (NMD candidate)

This locus represents a naturally occurring read-through transcript between the NPHP3 and ACAD11 genes that is unlikely to produce a functional protein product due to nonsense-mediated decay. No disease associations have been established for this read-through transcript, as it appears to be a transcriptional artifact rather than a clinically relevant gene.

ResearchSummary from RefSeq

This locus represents naturally occurring read-through transcription between the neighboring NPHP3 (nephronophthisis 3, adolescent) and ACAD11 (acyl-CoA dehydrogenase family, member 11) genes on chromosome 3. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011]

ResearchGenerating clinical summary…

Clinical Summary— NPHP3-ACAD11

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ClinVar Variants

200 unique Pathogenic / Likely Pathogenic· 889 VUS of 1837 total submissions

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Some data sources returned errors (2)

gnomad: Error: Gene not found

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

1837 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic107

Likely Pathogenic93

VUS889

Likely Benign555

Benign64

Conflicting113

107

Pathogenic

Likely Pathogenic

889

VUS

555

Likely Benign

Benign

113

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	99	7	1	0	107
Likely Pathogenic	74	16	1	2	93
VUS	8	798	69	14	889
Likely Benign	0	15	269	271	555
Benign	0	1	60	3	64
Conflicting	—				113
Total	181	837	400	290	1,821

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

View in ClinVar →

7 pathogenic / likely-pathogenic (of 10) ClinVar copy-number / structural variants overlap NPHP3-ACAD11 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →