NM_206933.3(USH2A):c.3558del (p.Cys1186fs) AND Retinitis pigmentosa 39

Clinical significance:Likely pathogenic (Last evaluated: Dec 16, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000411413.1

Allele description [Variation Report for NM_206933.3(USH2A):c.3558del (p.Cys1186fs)]

NM_206933.3(USH2A):c.3558del (p.Cys1186fs)

Genes:
USH2A-AS1:USH2A antisense RNA 1 [Gene - HGNC]
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.3(USH2A):c.3558del (p.Cys1186fs)
HGVS:
  • NC_000001.11:g.216199880del
  • NG_009497.1:g.228517del
  • NM_007123.5:c.3558del
  • NM_206933.3:c.3558del
  • NP_009054.5:p.Cys1186fs
  • NP_996816.2:p.Cys1186fs
  • NC_000001.10:g.216373222del
  • NC_000001.10:g.216373222delA
  • NM_206933.2:c.3558del
  • NM_206933.2:c.3558delT
  • c.3558delT
  • p.Cys1186fs
Protein change:
C1186fs
Links:
dbSNP: rs397518014
NCBI 1000 Genomes Browser:
rs397518014
Molecular consequence:
  • NM_007123.5:c.3558del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_206933.3:c.3558del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Retinitis pigmentosa 39 (RP39)
Identifiers:
MONDO: MONDO:0013436; MedGen: C3151138; Orphanet: 791; OMIM: 613809

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000487465Counsylcriteria provided, single submitter
Likely pathogenic
(Dec 16, 2015)
unknownclinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Counsyl, SCV000487465.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2021

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