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NM_001034853.2(RPGR):c.1567C>T (p.Gln523Ter) AND Retinal dystrophy

Germline classification:
Likely pathogenic (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:
RCV003890459.1

Allele description [Variation Report for NM_001034853.2(RPGR):c.1567C>T (p.Gln523Ter)]

NM_001034853.2(RPGR):c.1567C>T (p.Gln523Ter)

Gene:
RPGR:retinitis pigmentosa GTPase regulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.4
Genomic location:
Preferred name:
NM_001034853.2(RPGR):c.1567C>T (p.Gln523Ter)
HGVS:
  • NC_000023.11:g.38290964G>A
  • NG_009553.1:g.41572C>T
  • NM_000328.3:c.1567C>T
  • NM_001034853.2:c.1567C>TMANE SELECT
  • NM_001367245.1:c.1564C>T
  • NM_001367246.1:c.1381C>T
  • NM_001367247.1:c.1567C>T
  • NM_001367248.1:c.1597C>T
  • NM_001367249.1:c.1564C>T
  • NM_001367250.1:c.1564C>T
  • NM_001367251.1:c.1381C>T
  • NP_000319.1:p.Gln523Ter
  • NP_001030025.1:p.Gln523Ter
  • NP_001354174.1:p.Gln522Ter
  • NP_001354175.1:p.Gln461Ter
  • NP_001354176.1:p.Gln523Ter
  • NP_001354177.1:p.Gln533Ter
  • NP_001354178.1:p.Gln522Ter
  • NP_001354179.1:p.Gln522Ter
  • NP_001354180.1:p.Gln461Ter
  • NC_000023.10:g.38150217G>A
  • NR_159803.1:n.1929C>T
  • NR_159804.1:n.1643C>T
  • NR_159805.1:n.1709C>T
  • NR_159806.1:n.1709C>T
  • NR_159807.1:n.1617C>T
  • NR_159808.1:n.1821C>T
Protein change:
Q461*
Molecular consequence:
  • NR_159803.1:n.1929C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_159804.1:n.1643C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_159805.1:n.1709C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_159806.1:n.1709C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_159807.1:n.1617C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_159808.1:n.1821C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000328.3:c.1567C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001034853.2:c.1567C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001367245.1:c.1564C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001367246.1:c.1381C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001367247.1:c.1567C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001367248.1:c.1597C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001367249.1:c.1564C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001367250.1:c.1564C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001367251.1:c.1381C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV004707108Dept Of Ophthalmology, Nagoya University
criteria provided, single submitter

(Submitter's publication)		Likely pathogenic
(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, SCV004707108.1

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

Last Updated: Jun 23, 2024