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NM_001034853.2(RPGR):c.2937_2938del (p.Glu980fs) AND Retinitis pigmentosa 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 21, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001270913.1

Allele description [Variation Report for NM_001034853.2(RPGR):c.2937_2938del (p.Glu980fs)]

NM_001034853.2(RPGR):c.2937_2938del (p.Glu980fs)

Gene:
RPGR:retinitis pigmentosa GTPase regulator [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xp11.4
Genomic location:
Preferred name:
NM_001034853.2(RPGR):c.2937_2938del (p.Glu980fs)
HGVS:
  • NC_000023.11:g.38286063_38286064del
  • NG_009553.1:g.46474_46475del
  • NM_000328.3:c.1905+1032_1905+1033del
  • NM_001034853.2:c.2937_2938delMANE SELECT
  • NM_001367245.1:c.1902+1032_1902+1033del
  • NM_001367246.1:c.1719+1032_1719+1033del
  • NM_001367247.1:c.1572+4897_1572+4898del
  • NM_001367248.1:c.1602+4897_1602+4898del
  • NM_001367249.1:c.1569+4897_1569+4898del
  • NM_001367250.1:c.1569+4897_1569+4898del
  • NM_001367251.1:c.1386+4897_1386+4898del
  • NP_001030025.1:p.Glu980fs
  • NC_000023.10:g.38145314_38145315del
  • NC_000023.10:g.38145316_38145317del
  • NM_001034853.1:c.2937_2938del
Protein change:
E980fs
Links:
dbSNP: rs2067138439
NCBI 1000 Genomes Browser:
rs2067138439
Molecular consequence:
  • NM_001034853.2:c.2937_2938del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_000328.3:c.1905+1032_1905+1033del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367245.1:c.1902+1032_1902+1033del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367246.1:c.1719+1032_1719+1033del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367247.1:c.1572+4897_1572+4898del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367248.1:c.1602+4897_1602+4898del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367249.1:c.1569+4897_1569+4898del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367250.1:c.1569+4897_1569+4898del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367251.1:c.1386+4897_1386+4898del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Retinitis pigmentosa 3
Synonyms:
Cone-rod degeneration X-linked; Choroidoretinal degeneration with retinal reflex in heterozygous women; Retinitis pigmentosa 15
Identifiers:
MONDO: MONDO:0010227; MedGen: C1845667; Orphanet: 791; OMIM: 300029

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001451699Institute of Medical Molecular Genetics, University of Zurich
criteria provided, single submitter

(Maggi J et al. (Genes (Basel) 2020))		Pathogenic
(Dec 21, 2020) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

De Novo Assembly-Based Analysis of RPGR Exon ORF15 in an Indigenous African Cohort Overcomes Limitations of a Standard Next-Generation Sequencing (NGS) Data Analysis Pipeline.

Maggi J, Roberts L, Koller S, Rebello G, Berger W, Ramesar R.

Genes (Basel). 2020 Jul 15;11(7). doi:pii: E800. 10.3390/genes11070800.

PubMed [citation]
PMID:
32679846
PMCID:
PMC7396994

Details of each submission

From Institute of Medical Molecular Genetics, University of Zurich, SCV001451699.1

#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: Sep 29, 2024