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NM_001386298.1(CIC):c.5701C>T (p.Gln1901Ter) AND Intellectual disability, autosomal dominant 45

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 21, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000496576.2

Allele description [Variation Report for NM_001386298.1(CIC):c.5701C>T (p.Gln1901Ter)]

NM_001386298.1(CIC):c.5701C>T (p.Gln1901Ter)

Gene:
CIC:capicua transcriptional repressor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_001386298.1(CIC):c.5701C>T (p.Gln1901Ter)
HGVS:
  • NC_000019.10:g.42292173C>T
  • NG_042060.1:g.28637C>T
  • NM_001304815.2:c.5701C>T
  • NM_001379480.1:c.5701C>T
  • NM_001379482.1:c.5701C>T
  • NM_001379484.1:c.2974C>T
  • NM_001379485.1:c.2974C>T
  • NM_001386298.1:c.5701C>TMANE SELECT
  • NM_015125.5:c.2974C>T
  • NP_001291744.1:p.Gln1901Ter
  • NP_001366409.1:p.Gln1901Ter
  • NP_001366411.1:p.Gln1901Ter
  • NP_001366413.1:p.Gln992Ter
  • NP_001366414.1:p.Gln992Ter
  • NP_001373227.1:p.Gln1901Ter
  • NP_055940.3:p.Gln992Ter
  • NP_055940.3:p.Gln992Ter
  • LRG_999t1:c.2974C>T
  • LRG_999:g.28637C>T
  • LRG_999p1:p.Gln992Ter
  • NC_000019.9:g.42796325C>T
  • NM_015125.3:c.2974C>T
  • NM_015125.4:c.2974C>T
Protein change:
Q1901*; GLN992TER
Links:
OMIM: 612082.0004; dbSNP: rs1135401825
NCBI 1000 Genomes Browser:
rs1135401825
Molecular consequence:
  • NM_001304815.2:c.5701C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001379480.1:c.5701C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001379482.1:c.5701C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001379484.1:c.2974C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001379485.1:c.2974C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001386298.1:c.5701C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_015125.5:c.2974C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Intellectual disability, autosomal dominant 45
Synonyms:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45; INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 45
Identifiers:
MONDO: MONDO:0030910; MedGen: C4539848; OMIM: 617600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000586812OMIM
no assertion criteria provided
Pathogenic
(Apr 21, 2022) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.

Lu HC, Tan Q, Rousseaux MW, Wang W, Kim JY, Richman R, Wan YW, Yeh SY, Patel JM, Liu X, Lin T, Lee Y, Fryer JD, Han J, Chahrour M, Finnell RH, Lei Y, Zurita-Jimenez ME, Ahimaz P, Anyane-Yeboa K, Van Maldergem L, Lehalle D, et al.

Nat Genet. 2017 Apr;49(4):527-536. doi: 10.1038/ng.3808. Epub 2017 Mar 13.

PubMed [citation]
PMID:
28288114
PMCID:
PMC5374026

Details of each submission

From OMIM, SCV000586812.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 15-year-old boy with autosomal dominant intellectual developmental disorder-45 (MRD45; 617600), Lu et al. (2017) identified a de novo heterozygous c.2974C-T transition (c.2974C-T, NM_015125.4) in the CIC gene, resulting in a gln992-to-ter (Q992X) substitution. The mutation was inherited from the unaffected father who was mosaic for the mutant allele (15% mosaicism). The mutation was found by exome sequencing and confirmed by Sanger sequencing.

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

Last Updated: Jun 23, 2024