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NM_058169.6(BORCS5):c.203-1G>T AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 17, 2024
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:
RCV004765325.1

Allele description [Variation Report for NM_058169.6(BORCS5):c.203-1G>T]

NM_058169.6(BORCS5):c.203-1G>T

Gene:
BORCS5:BLOC-1 related complex subunit 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.2
Genomic location:
Preferred name:
NM_058169.6(BORCS5):c.203-1G>T
HGVS:
  • NC_000012.12:g.12435627G>T
  • NM_001300742.3:c.146-1G>T
  • NM_001330356.2:c.59-1G>T
  • NM_058169.6:c.203-1G>TMANE SELECT
  • NC_000012.11:g.12588561G>T
  • NM_058169.4:c.203-1G>T
  • c.203-1G-T
Links:
OMIM: 616598.0001; dbSNP: rs1555155556
NCBI 1000 Genomes Browser:
rs1555155556
Molecular consequence:
  • NM_001300742.3:c.146-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001330356.2:c.59-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_058169.6:c.203-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005375215OMIM
no assertion criteria provided
Uncertain significance
(Oct 17, 2024) 		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

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.

Charng WL, Karaca E, Coban Akdemir Z, Gambin T, Atik MM, Gu S, Posey JE, Jhangiani SN, Muzny DM, Doddapaneni H, Hu J, Boerwinkle E, Gibbs RA, Rosenfeld JA, Cui H, Xia F, Manickam K, Yang Y, Faqeih EA, Al Asmari A, Saleh MA, El-Hattab AW, et al.

BMC Med Genomics. 2016 Jul 19;9(1):42. doi: 10.1186/s12920-016-0208-3.

PubMed [citation]
PMID:
27435318
PMCID:
PMC4950750

Details of each submission

From OMIM, SCV005375215.1

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

Description

In a patient (BAB6775) with a neurodevelopmental disorder including developmental delay, microcephaly, and brain malformations, Charng et al. (2016) identified homozygosity for a c.203-1G-T transversion (c.203-1G-T, NM_058169.4) in the LOH12CR1 gene. The variant, which was identified by whole-exome sequencing and confirmed by Sanger sequencing, was not present in homozygous state in the ExAC database. Analysis of protein interactions of LOH12CR1 indicated that it interacts with PUF60 (604819) and TAX1BP3 (616484). The patient had developmental delay, seizures, cortical malformation, polymicrogyria, and agenesis of the corpus callosum.

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

Last Updated: Oct 26, 2024