NM_000330.3(RS1):c.579del (p.Ile194fs) AND Juvenile retinoschisis

Clinical significance:Pathogenic (Last evaluated: Jun 10, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001526768.1

Allele description [Variation Report for NM_000330.3(RS1):c.579del (p.Ile194fs)]

NM_000330.3(RS1):c.579del (p.Ile194fs)

Genes:
CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]
RS1:retinoschisin 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xp22.13
Genomic location:
Preferred name:
NM_000330.3(RS1):c.579del (p.Ile194fs)
HGVS:
  • NC_000023.11:g.18642105del
  • NG_008475.1:g.221501del
  • NG_008659.3:g.40349del
  • NM_000330.3:c.579del
  • NM_001037343.1:c.2714-3902del
  • NM_003159.2:c.2714-3902del
  • NP_000321.1:p.Ile194fs
  • LRG_702t1:c.579del
  • LRG_702:g.40349del
  • LRG_702p1:p.Ile194fs
  • NC_000023.10:g.18660220del
  • NC_000023.10:g.18660225del
  • NM_000330.3:c.579delC
Protein change:
I194fs
Links:
dbSNP: rs199469697
NCBI 1000 Genomes Browser:
rs199469697
Molecular consequence:
  • NM_000330.3:c.579del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001037343.1:c.2714-3902del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003159.2:c.2714-3902del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Juvenile retinoschisis (RS1)
Synonyms:
XJR; X-linked retinoschisis; Retinoschisis juvenile X chromosome-linked; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010725; MedGen: C3714753; Orphanet: 792; OMIM: 312700

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001737342Nilou-Genome Labcriteria provided, single submitter
Pathogenic
(Jun 10, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot 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 Nilou-Genome Lab, SCV001737342.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 24, 2021

Support Center