NM_001029883.3(PCARE):c.758G>A (p.Trp253Ter) AND Retinal dystrophy

Clinical significance:Pathogenic (Last evaluated: Nov 23, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000504934.2

Allele description [Variation Report for NM_001029883.3(PCARE):c.758G>A (p.Trp253Ter)]

NM_001029883.3(PCARE):c.758G>A (p.Trp253Ter)

Gene:
PCARE:photoreceptor cilium actin regulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.2
Genomic location:
Preferred name:
NM_001029883.3(PCARE):c.758G>A (p.Trp253Ter)
HGVS:
  • NC_000002.12:g.29073504C>T
  • NG_021427.1:g.5758G>A
  • NM_001029883.3:c.758G>AMANE SELECT
  • NP_001025054.1:p.Trp253Ter
  • NC_000002.11:g.29296370C>T
  • NM_001029883.1:c.758G>A
  • NM_001029883.2:c.758G>A
Protein change:
W253*
Links:
dbSNP: rs750987123
NCBI 1000 Genomes Browser:
rs750987123
Molecular consequence:
  • NM_001029883.3:c.758G>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000598876NIHR Bioresource Rare Diseases, University of Cambridgeno assertion criteria providedPathogenic
(Jan 1, 2015)
unknownresearch

PubMed (2)
[See all records that cite these PMIDs]

SCV001240914Blueprint Geneticscriteria provided, single submitter
Pathogenic
(Nov 23, 2017)
germlineclinical testing

Citation Link

Description

My Retina Tracker patient

SCV001240914

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
South East Asianunknownyes1not providednot provided1not providedresearch

Citations

PubMed

Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.

Nishimura DY, Baye LM, Perveen R, Searby CC, Avila-Fernandez A, Pereiro I, Ayuso C, Valverde D, Bishop PN, Manson FD, Urquhart J, Stone EM, Slusarski DC, Black GC, Sheffield VC.

Am J Hum Genet. 2010 May 14;86(5):686-95. doi: 10.1016/j.ajhg.2010.03.005. Epub 2010 Apr 15.

PubMed [citation]
PMID:
20398886
PMCID:
PMC2868997

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, et al.

Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29.

PubMed [citation]
PMID:
28041643
PMCID:
PMC5223092

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV000598876.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1South East Asian1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

From Blueprint Genetics, SCV001240914.1

#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: Jan 16, 2021

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