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NM_001034853.2(RPGR):c.2966del (p.Glu989fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 1, 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:
RCV002275325.16

Allele description [Variation Report for NM_001034853.2(RPGR):c.2966del (p.Glu989fs)]

NM_001034853.2(RPGR):c.2966del (p.Glu989fs)

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.2966del (p.Glu989fs)
HGVS:
  • NC_000023.11:g.38286033del
  • NG_009553.1:g.46503del
  • NM_000328.3:c.1905+1061del
  • NM_001034853.2:c.2966delMANE SELECT
  • NM_001367245.1:c.1902+1061del
  • NM_001367246.1:c.1719+1061del
  • NM_001367247.1:c.1572+4926del
  • NM_001367248.1:c.1602+4926del
  • NM_001367249.1:c.1569+4926del
  • NM_001367250.1:c.1569+4926del
  • NM_001367251.1:c.1386+4926del
  • NP_001030025.1:p.Glu989fs
  • NC_000023.10:g.38145286del
  • NM_001034853.1:c.2966del
Protein change:
E989fs
Links:
dbSNP: rs2067134850
NCBI 1000 Genomes Browser:
rs2067134850
Molecular consequence:
  • NM_001034853.2:c.2966del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_000328.3:c.1905+1061del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367245.1:c.1902+1061del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367246.1:c.1719+1061del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367247.1:c.1572+4926del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367248.1:c.1602+4926del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367249.1:c.1569+4926del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367250.1:c.1569+4926del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367251.1:c.1386+4926del - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

  • RecName: Full=E3 ubiquitin-protein ligase RBBP6; AltName: Full=Proliferation pot...
    RecName: Full=E3 ubiquitin-protein ligase RBBP6; AltName: Full=Proliferation potential-related protein; AltName: Full=Protein P2P-R; AltName: Full=RING-type E3 ubiquitin transferase RBBP6; AltName: Full=Retinoblastoma-binding Q protein 1; Short=RBQ-1; AltName: Full=Retinoblastoma-binding protein 6; AltName: Full=p53-associated cellular protein of testis
    gi|74762440|sp|Q7Z6E9.1|RBBP6_HUMAN
    Protein

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002564099CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Pathogenic
(Feb 1, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV002564099.15

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024