NM_006269.2(RP1):c.1234dup (p.Met412fs) AND Retinitis pigmentosa 1

Clinical significance:Likely pathogenic (Last evaluated: Apr 8, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001376505.1

Allele description [Variation Report for NM_006269.2(RP1):c.1234dup (p.Met412fs)]

NM_006269.2(RP1):c.1234dup (p.Met412fs)

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.1234dup (p.Met412fs)
HGVS:
  • NC_000008.11:g.54625116dup
  • NG_009840.1:g.14050dup
  • NG_009840.2:g.14050dup
  • NM_001375654.1:c.787+2828dup
  • NM_006269.2:c.1234dupMANE SELECT
  • NP_006260.1:p.Met412fs
  • NC_000008.10:g.55537673_55537674insA
  • NC_000008.10:g.55537676dup
  • NM_006269.1:c.1234dup
Protein change:
M412fs
Links:
dbSNP: rs760283610
NCBI 1000 Genomes Browser:
rs760283610
Molecular consequence:
  • NM_006269.2:c.1234dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001375654.1:c.787+2828dup - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001573678Ocular Genomics Institute, Massachusetts Eye and Earcriteria provided, single submitter
Likely pathogenic
(Apr 8, 2021)
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

Citations

PubMed

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 Ocular Genomics Institute, Massachusetts Eye and Ear, SCV001573678.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

The RP1 c.1234dup variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic.

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

Last Updated: Oct 7, 2021

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