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NM_001034853.2(RPGR):c.3039_3040del (p.Glu1014fs) AND Retinitis pigmentosa 3

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001251543.2

Allele description [Variation Report for NM_001034853.2(RPGR):c.3039_3040del (p.Glu1014fs)]

NM_001034853.2(RPGR):c.3039_3040del (p.Glu1014fs)

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.3039_3040del (p.Glu1014fs)
HGVS:
  • NC_000023.11:g.38285961_38285962del
  • NG_009553.1:g.46576_46577del
  • NM_000328.3:c.1905+1134_1905+1135del
  • NM_001034853.2:c.3039_3040delMANE SELECT
  • NM_001367245.1:c.1902+1134_1902+1135del
  • NM_001367246.1:c.1719+1134_1719+1135del
  • NM_001367247.1:c.1572+4999_1572+5000del
  • NM_001367248.1:c.1602+4999_1602+5000del
  • NM_001367249.1:c.1569+4999_1569+5000del
  • NM_001367250.1:c.1569+4999_1569+5000del
  • NM_001367251.1:c.1386+4999_1386+5000del
  • NP_001030025.1:p.Glu1014fs
  • NC_000023.10:g.38145212_38145213del
  • NC_000023.10:g.38145214_38145215del
  • NM_001034853.1:c.3039_3040del
Protein change:
E1014fs
Links:
dbSNP: rs2067127718
NCBI 1000 Genomes Browser:
rs2067127718
Molecular consequence:
  • NM_001034853.2:c.3039_3040del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_000328.3:c.1905+1134_1905+1135del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367245.1:c.1902+1134_1902+1135del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367246.1:c.1719+1134_1719+1135del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367247.1:c.1572+4999_1572+5000del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367248.1:c.1602+4999_1602+5000del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367249.1:c.1569+4999_1569+5000del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367250.1:c.1569+4999_1569+5000del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367251.1:c.1386+4999_1386+5000del - 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
SCV001427345Blueprint Genetics
no assertion criteria provided
Pathogenicgermlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Blueprint Genetics, SCV001427345.1

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

Last Updated: Nov 3, 2024