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NM_018474.6(KIZ):c.86_89+19del AND Retinitis pigmentosa 69

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 23, 2019
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:
RCV001089482.2

Allele description [Variation Report for NM_018474.6(KIZ):c.86_89+19del]

NM_018474.6(KIZ):c.86_89+19del

Genes:
LOC130065507:ATAC-STARR-seq lymphoblastoid silent region 12713 [Gene]
KIZ:kizuna centrosomal protein [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
20p11.23
Genomic location:
Preferred name:
NM_018474.6(KIZ):c.86_89+19del
HGVS:
  • NC_000020.11:g.21126201_21126223del
  • NG_033122.2:g.5222_5244del
  • NM_001163022.3:c.-61_-58+19del
  • NM_001163023.3:c.-61_-58+19del
  • NM_001276389.2:c.165_168+19del
  • NM_001352434.2:c.86_89+19del
  • NM_001352435.2:c.-61_-58+19del
  • NM_001352436.2:c.-301_-298+19del
  • NM_018474.6:c.86_89+19delMANE SELECT
  • NC_000020.10:g.21106842_21106864del
  • NM_001163022.1:c.-61_-58+19del
Links:
dbSNP: rs2031451980
NCBI 1000 Genomes Browser:
rs2031451980
Molecular consequence:
  • NM_001163022.3:c.-61_-58+19del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001163023.3:c.-61_-58+19del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001276389.2:c.165_168+19del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001352434.2:c.86_89+19del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001352435.2:c.-61_-58+19del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001352436.2:c.-301_-298+19del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_018474.6:c.86_89+19del - splice donor variant - [Sequence Ontology: SO:0001575]
Functional consequence:
Variation affecting splicing function of RNA [Variation Ontology: 0397]
Observations:
2

Condition(s)

Name:
Retinitis pigmentosa 69 (RP69)
Identifiers:
MONDO: MONDO:0014345; MedGen: C4014312; Orphanet: 791; OMIM: 615780

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000998478Ramesar Group, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, UCT/MRC Genomic and Precision Medicine Research Unit, University of Cape Town
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Oct 23, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Indiangermlineyes1not providednot providednot providednot providedclinical testing
Indian origingermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Ramesar Group, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, UCT/MRC Genomic and Precision Medicine Research Unit, University of Cape Town, SCV000998478.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Indian1not providednot providedclinical testing PubMed (1)
2Indian origin1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 13, 2025