NM_001029883.3(PCARE):c.2789_2795dup (p.Gln932fs) AND Retinal dystrophy

Clinical significance:Likely pathogenic (Last evaluated: Apr 25, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001073512.1

Allele description [Variation Report for NM_001029883.3(PCARE):c.2789_2795dup (p.Gln932fs)]

NM_001029883.3(PCARE):c.2789_2795dup (p.Gln932fs)

Gene:
PCARE:photoreceptor cilium actin regulator [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
2p23.2
Genomic location:
Preferred name:
NM_001029883.3(PCARE):c.2789_2795dup (p.Gln932fs)
HGVS:
  • NC_000002.12:g.29071470CTGGTGG[3]
  • NC_000002.12:g.29071470_29071476CTGGTGG[3]
  • NG_021427.1:g.7782CCAGCCA[3]
  • NM_001029883.3:c.2789_2795dupMANE SELECT
  • NP_001025054.1:p.Gln932fs
  • NC_000002.11:g.29294336CTGGTGG[3]
  • NM_001029883.2:c.2789_2795dup
Protein change:
Q932fs
Molecular consequence:
  • NM_001029883.3:c.2789_2795dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Retinal dystrophy
Identifiers:
MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001239058Blueprint Geneticscriteria provided, single submitter
Likely pathogenic
(Apr 25, 2019)
germlineclinical testing

Citation Link

Description

My Retina Tracker patient

SCV001239058

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV001239058.1

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

Last Updated: May 28, 2021

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