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NM_001199198.3(TBC1D23):c.1526delinsAA (p.Ile509fs) AND Pontocerebellar hypoplasia, type 11

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 29, 2017
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:
RCV000508999.1

Allele description [Variation Report for NM_001199198.3(TBC1D23):c.1526delinsAA (p.Ile509fs)]

NM_001199198.3(TBC1D23):c.1526delinsAA (p.Ile509fs)

Gene:
TBC1D23:TBC1 domain family member 23 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
3q12.2
Genomic location:
Preferred name:
NM_001199198.3(TBC1D23):c.1526delinsAA (p.Ile509fs)
HGVS:
  • NC_000003.12:g.100310515delinsAA
  • NM_001199198.3:c.1526delinsAAMANE SELECT
  • NM_018309.5:c.1526delinsAA
  • NP_001186127.1:p.Ile509fs
  • NP_060779.2:p.Ile509fs
  • NC_000003.11:g.100029359delinsAA
Nucleotide change:
DEL/INS, 1526AA
Protein change:
I509fs
Links:
OMIM: 617687.0002; dbSNP: rs1553730885
NCBI 1000 Genomes Browser:
rs1553730885
Molecular consequence:
  • NM_001199198.3:c.1526delinsAA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_018309.5:c.1526delinsAA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Pontocerebellar hypoplasia, type 11
Identifiers:
MONDO: MONDO:0054669; MedGen: C4540164; OMIM: 617695

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000606753OMIM
no assertion criteria provided
Pathogenic
(Sep 29, 2017) 		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

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

Ivanova EL, Mau-Them FT, Riazuddin S, Kahrizi K, Laugel V, Schaefer E, de Saint Martin A, Runge K, Iqbal Z, Spitz MA, Laura M, Drouot N, Gérard B, Deleuze JF, de Brouwer APM, Razzaq A, Dollfus H, Assir MZ, Nitchké P, Hinckelmann MV, Ropers H, Riazuddin S, et al.

Am J Hum Genet. 2017 Sep 7;101(3):428-440. doi: 10.1016/j.ajhg.2017.07.010. Epub 2017 Aug 17.

PubMed [citation]
PMID:
28823707
PMCID:
PMC5590842

Details of each submission

From OMIM, SCV000606753.1

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

Description

In 2 sibs, born of consanguineous Iranian parents (family 2, M268) with pontocerebellar hypoplasia type 11 (PCH11; 617695), Ivanova et al. (2017) identified a homozygous 2-bp del/ins (c.1526delinsAA, NM_001199198.2) in exon 14 of the TBC1D23 gene, resulting in a frameshift and premature termination (Ile509LysfsTer31). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not found in the dbSNP, 1000 Genomes Project, or ExAC databases. Functional studies of the variant and studies of patient cells were not performed.

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

Last Updated: Jul 8, 2022