RNU7-1

RNA, U7 small nuclear 1, the group of Small nuclear RNAs

Basic information

Region (hg38): 12:6943816-6943878

Previous symbols: [ "RNU7" ]

Links

ENSG00000238923 ∙ NCBI:100147744 ∙ OMIM:617876 ∙ HGNC:34033 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• Aicardi-Goutieres syndrome 9 (Moderate), mode of inheritance: AR
• Aicardi-Goutieres syndrome 9 (Strong), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RNU7-1 gene.

• not provided (11 variants)
• Aicardi-Goutieres syndrome 9 (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNU7-1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding	2	4	3	5	2	16
Total	2	4	3	5	2

Highest pathogenic variant AF is 0.000164

Variants in RNU7-1

This is a list of pathogenic ClinVar variants found in the RNU7-1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
12-6943838-T-G		Aicardi-Goutieres syndrome 9	Uncertain significance (Sep 02, 2022)
12-6943843-C-G		Aicardi-Goutieres syndrome 9	Likely pathogenic (Jul 01, 2024)
12-6943843-C-T		Aicardi-Goutieres syndrome 9	Pathogenic/Likely pathogenic (Oct 26, 2022)
12-6943845-A-G		Aicardi-Goutieres syndrome 9	Likely pathogenic (May 26, 2021)
12-6943846-G-C			Uncertain significance (Sep 01, 2022)
12-6943848-AGGCTTTCT-A		Aicardi-Goutieres syndrome 9	Likely pathogenic (Jul 01, 2024)
12-6943850-G-A		Aicardi-Goutieres syndrome 9	Pathogenic (Aug 16, 2021)
12-6943851-C-T			Benign/Likely benign (Feb 01, 2024)
12-6943852-T-G			Uncertain significance (Sep 01, 2022)
12-6943856-T-C			Likely benign (Aug 01, 2023)
12-6943856-T-G		Aicardi-Goutieres syndrome 9	Pathogenic (Aug 16, 2021)
12-6943859-C-T		not specified	Benign (Jan 24, 2024)
12-6943863-T-C			Benign (Mar 28, 2021)
12-6943864-T-C			Likely benign (Jul 01, 2024)
12-6943866-C-T		Aicardi-Goutieres syndrome 9	Benign/Likely benign (Jul 01, 2024)
12-6943867-C-T			Likely benign (Mar 29, 2021)
12-6943875-C-T			Likely benign (Apr 02, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP