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NM_001034853.2(RPGR):c.3183GGA[2] (p.Glu1066del) AND Retinal dystrophy

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 1, 2023
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:
RCV003887975.1

Allele description [Variation Report for NM_001034853.2(RPGR):c.3183GGA[2] (p.Glu1066del)]

NM_001034853.2(RPGR):c.3183GGA[2] (p.Glu1066del)

Gene:
RPGR:retinitis pigmentosa GTPase regulator [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
Xp11.4
Genomic location:
Preferred name:
NM_001034853.2(RPGR):c.3183GGA[2] (p.Glu1066del)
HGVS:
  • NC_000023.11:g.38285810CTC[2]
  • NG_009553.1:g.46720GGA[2]
  • NM_000328.3:c.1905+1278GGA[2]
  • NM_001034853.2:c.3183GGA[2]MANE SELECT
  • NM_001367245.1:c.1902+1278GGA[2]
  • NM_001367246.1:c.1719+1278GGA[2]
  • NM_001367247.1:c.1572+5143GGA[2]
  • NM_001367248.1:c.1602+5143GGA[2]
  • NM_001367249.1:c.1569+5143GGA[2]
  • NM_001367250.1:c.1569+5143GGA[2]
  • NM_001367251.1:c.1386+5143GGA[2]
  • NP_001030025.1:p.Glu1066del
  • NC_000023.10:g.38145061_38145063del
  • NC_000023.10:g.38145063CTC[2]
  • NM_001034853.1:c.3189_3191del
  • NM_001034853.1:c.3189_3191delGGA
  • NM_001034853.2:c.3189_3191delGGAMANE SELECT
Protein change:
E1066del
Links:
dbSNP: rs746535151
NCBI 1000 Genomes Browser:
rs746535151
Molecular consequence:
  • NM_001034853.2:c.3183GGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_000328.3:c.1905+1278GGA[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367245.1:c.1902+1278GGA[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367246.1:c.1719+1278GGA[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367247.1:c.1572+5143GGA[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367248.1:c.1602+5143GGA[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367249.1:c.1569+5143GGA[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367250.1:c.1569+5143GGA[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367251.1:c.1386+5143GGA[2] - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Retinal dystrophy
Synonyms:
Inherited retinal dystrophy
Identifiers:
MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004707073Dept Of Ophthalmology, Nagoya University
criteria provided, single submitter

(Submitter's publication)		Likely benign
(Oct 1, 2023) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Dept Of Ophthalmology, Nagoya University, SCV004707073.1

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

Last Updated: Oct 13, 2024