NM_006269.2(RP1):c.4196del (p.Cys1399fs) AND Retinitis pigmentosa 1

Clinical significance:Likely pathogenic (Last evaluated: Mar 18, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000490313.1

Allele description [Variation Report for NM_006269.2(RP1):c.4196del (p.Cys1399fs)]

NM_006269.2(RP1):c.4196del (p.Cys1399fs)

Gene:
RP1:RP1 axonemal microtubule associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
8q12.1
Genomic location:
Preferred name:
NM_006269.2(RP1):c.4196del (p.Cys1399fs)
HGVS:
  • NC_000008.11:g.54628078del
  • NG_009840.1:g.17012del
  • NG_009840.2:g.17012del
  • NM_006269.2:c.4196delMANE SELECT
  • NP_006260.1:p.Cys1399fs
  • NC_000008.10:g.55540638del
  • NM_006269.1:c.4196delG
Protein change:
C1399fs
Links:
dbSNP: rs762951570
NCBI 1000 Genomes Browser:
rs762951570
Molecular consequence:
  • NM_006269.2:c.4196del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Retinitis pigmentosa 1 (RP1)
Identifiers:
MONDO: MONDO:0008377; MedGen: C0220701; Orphanet: 791; OMIM: 180100

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000267478Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Centercriteria provided, single submitter
Likely pathogenic
(Mar 18, 2016)
germlinereference population

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
East Asiangermlineunknown2not providednot providednot providednot providedreference population

Citations

PubMed

Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa.

Pierce EA, Quinn T, Meehan T, McGee TL, Berson EL, Dryja TP.

Nat Genet. 1999 Jul;22(3):248-54.

PubMed [citation]
PMID:
10391211

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center, SCV000267478.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1East Asian2not providednot providedreference population PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 7, 2021

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