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NM_000276.4(OCRL):c.940-11G>A AND Dent disease type 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 28, 2018
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:
RCV001335218.1

Allele description [Variation Report for NM_000276.4(OCRL):c.940-11G>A]

NM_000276.4(OCRL):c.940-11G>A

Gene:
OCRL:OCRL inositol polyphosphate-5-phosphatase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq26.1
Genomic location:
Preferred name:
NM_000276.4(OCRL):c.940-11G>A
HGVS:
  • NC_000023.11:g.129562373G>A
  • NG_008638.1:g.27099G>A
  • NM_000276.4:c.940-11G>AMANE SELECT
  • NM_001318784.2:c.943-11G>A
  • NM_001587.4:c.940-11G>A
  • NC_000023.10:g.128696350G>A
  • NM_000276.3:c.940-11G>A
Links:
dbSNP: rs776743373
NCBI 1000 Genomes Browser:
rs776743373
Molecular consequence:
  • NM_000276.4:c.940-11G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001318784.2:c.943-11G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001587.4:c.940-11G>A - intron variant - [Sequence Ontology: SO:0001627]
Functional consequence:
Variation affecting splicing function of RNA [Variation Ontology: 0397]

Condition(s)

Name:
Dent disease type 2
Identifiers:
MONDO: MONDO:0010359; MedGen: C1845167; Orphanet: 1652; Orphanet: 93623; OMIM: 300555

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001528313Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jun 28, 2018) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Identification of OCRL1 mutations in two Taiwanese Lowe syndrome patients.

Chou YY, Chao SC, Chiou YY, Lin SJ.

Acta Paediatr Taiwan. 2005 Jul-Aug;46(4):226-9.

PubMed [citation]
PMID:
16381338

A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome.

Nakanishi K, Nozu K, Hiramoto R, Minamikawa S, Yamamura T, Fujimura J, Horinouchi T, Ninchoji T, Kaito H, Morisada N, Ishimori S, Nakanishi K, Morioka I, Awano H, Matsuo M, Iijima K.

Eur J Med Genet. 2017 Dec;60(12):631-634. doi: 10.1016/j.ejmg.2017.08.001. Epub 2017 Aug 9.

PubMed [citation]
PMID:
28803024
See all PubMed Citations (3)

Details of each submission

From Baylor Genetics, SCV001528313.1

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

Description

This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant was reported previously as disease-causing [PMID: 16381338, 28803024]

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 14, 2024