NM_006269.2(RP1):c.2613dup (p.Arg872fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Sep 12, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001092033.4

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]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001248372CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(Sep 1, 2017)
germlineclinical testing

Citation Link,

SCV001378919Invitaecriteria provided, single submitter
Pathogenic
(Sep 12, 2019)
germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

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 (6)

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001248372.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

From Invitae, SCV001378919.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

This sequence change results in a premature translational stop signal in the RP1 gene (p.Arg872Thrfs*2). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1283 amino acids of the RP1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals affected with autosomal dominant retinitis pigmentosa (RP) (PMID:11095597, 27391102, 28041643) and has been observed to segregate with autosomal dominant RP in a family (PMID: 27391102). This variant is also known as c.2608-2609insA in the literature. ClinVar contains an entry for this variant (Variation ID: 437955). This variant disrupts the C-terminus of the RP1 protein. Many variants that disrupt this region have been reported in individuals with either autosomal dominant or autosomal recessive retinitis pigmentosa (PMID: 11527933, 19933189). Therefore, variants that disrupt this region are expected to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2021

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