U.S. flag

An official website of the United States government

NR_023317.1(RNU7-1):n.30A>G AND Aicardi-Goutieres syndrome 9

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 26, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001797008.13

Allele description [Variation Report for NR_023317.1(RNU7-1):n.30A>G]

NR_023317.1(RNU7-1):n.30A>G

Genes:
RNU7-1:RNA, U7 small nuclear 1 [Gene - OMIM - HGNC]
C12orf57:chromosome 12 open reading frame 57 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.31
Genomic location:
Preferred name:
NR_023317.1(RNU7-1):n.30A>G
HGVS:
  • NC_000012.12:g.6943845A>G
  • NG_008047.1:g.24383A>G
  • NG_008047.2:g.24388A>G
  • NG_034262.1:g.5029A>G
  • NG_125067.2:g.116A>G
  • NM_001301834.1:c.-16+183A>G
  • NM_001301836.2:c.13+183A>G
  • NM_001301837.1:c.-277A>G
  • NM_001301838.1:c.-478A>G
  • NM_138425.3:c.-277A>G
  • NC_000012.11:g.7053008A>G
  • NG_125067.1:g.116A>G
  • NR_023317.1:n.30A>G
  • NR_126035.1:n.29A>G
Links:
dbSNP: rs781842057
NCBI 1000 Genomes Browser:
rs781842057
Molecular consequence:
  • NM_001301834.1:c.-16+183A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001301836.2:c.13+183A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NR_023317.1:n.30A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Aicardi-Goutieres syndrome 9
Identifiers:
MONDO: MONDO:0030362; MedGen: C5561966; OMIM: 619487

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002038521Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSLVariantClassificationCriteria RUGD 01 April 2020)		Likely pathogenic
(May 26, 2021) 		unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

In vivo assembly of functional U7 snRNP requires RNA backbone flexibility within the Sm-binding site.

Kolev NG, Steitz JA.

Nat Struct Mol Biol. 2006 Apr;13(4):347-53. Epub 2006 Mar 19.

PubMed [citation]
PMID:
16547514

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing.

Uggenti C, Lepelley A, Depp M, Badrock AP, Rodero MP, El-Daher MT, Rice GI, Dhir S, Wheeler AP, Dhir A, Albawardi W, Frémond ML, Seabra L, Doig J, Blair N, Martin-Niclos MJ, Della Mina E, Rubio-Roldán A, García-Pérez JL, Sproul D, Rehwinkel J, Hertzog J, et al.

Nat Genet. 2020 Dec;52(12):1364-1372. doi: 10.1038/s41588-020-00737-3. Epub 2020 Nov 23.

PubMed [citation]
PMID:
33230297
See all PubMed Citations (3)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV002038521.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The RNU7-1 g.7053008A>G variant (chr12, hg19), also referred to as RNU7-1 (NR_023317.1) n.30A>G, is a non-coding transcript exon variant that has been reported in a four year old boy of European Russian descent with Aicardi-Goutieres syndrome in a compound heterozygous state with a second RNU7-1 variant, n.34_41del (Uggenti et al. 2020). The n.30A>G variant is reported at a frequency of 0.000065 in the European Non-Finnish population of the Genome Aggregation Database (version 2.1.1), an allele frequency consistent with a rare autosomal recessive disorder. The n.30A>G variant is located within the noncanonical Sm-binding site of U7 snRNA, a region which determines the assembly of the U7snRNP (Stefanovic et al. 1995). Using a chimeric mouse histone H4 pre-mRNA-U7 snRNA construct, in a xenopus oocyte in vitro system, Kolev et al. showed that substitution of alternative nucleotides at n.30A abolished pre-mRNA processing (Kolev et al. 2006). Based the evidence, the n.30A>G variant is classified as likely pathogenic for Aicardi-Goutieres syndrome.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 5, 2025