NM_006269.2(RP1):c.2613dup (p.Arg872fs) AND Retinitis pigmentosa

Clinical significance:Pathogenic (Last evaluated: Jan 9, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000504747.2

Allele description [Variation Report for NM_006269.2(RP1):c.2613dup (p.Arg872fs)]

NM_006269.2(RP1):c.2613dup (p.Arg872fs)

Gene:
RP1:RP1 axonemal microtubule associated [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
8q12.1
Genomic location:
Preferred name:
NM_006269.2(RP1):c.2613dup (p.Arg872fs)
HGVS:
  • NC_000008.11:g.54626495dup
  • NG_009840.1:g.15429dup
  • NG_009840.2:g.15429dup
  • NM_006269.2:c.2613dupMANE SELECT
  • NP_006260.1:p.Arg872fs
  • NC_000008.10:g.55539049_55539050insA
  • NC_000008.10:g.55539055dup
  • NM_006269.1:c.2613dup
  • NM_006269.1:c.2613dupA
Protein change:
R872fs
Links:
dbSNP: rs1449723475
NCBI 1000 Genomes Browser:
rs1449723475
Molecular consequence:
  • NM_006269.2:c.2613dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Retinitis pigmentosa (RP)
Synonyms:
Tapetoretinal degeneration; Retinotapetal degeneration
Identifiers:
MONDO: MONDO:0019200; MeSH: D012174; MedGen: C0035334; Orphanet: 791; OMIM: 268000; OMIM: PS268000; Human Phenotype Ontology: HP:0000547

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000598689NIHR Bioresource Rare Diseases, University of Cambridgeno assertion criteria providedPathogenic
(Jan 1, 2015)
unknownresearch

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

SCV001162636Molecular Genetics Laboratory,Institute for Ophthalmic Researchcriteria provided, single submitter
Pathogenic
(Jan 9, 2020)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch
Europeanunknownyes1not providednot provided1not providedresearch

Citations

PubMed

RP1 protein truncating mutations predominate at the RP1 adRP locus.

Payne A, Vithana E, Khaliq S, Hameed A, Deller J, Abu-Safieh L, Kermani S, Leroy BP, Mehdi SQ, Moore AT, Bird AC, Bhattacharya SS.

Invest Ophthalmol Vis Sci. 2000 Dec;41(13):4069-73.

PubMed [citation]
PMID:
11095597

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
See all PubMed Citations (3)

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV000598689.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1European1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

From Molecular Genetics Laboratory,Institute for Ophthalmic Research, SCV001162636.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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