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NM_001034853.2(RPGR):c.3255del (p.Glu1084_Tyr1085insTer) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 18, 2022
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:
RCV002473193.1

Allele description [Variation Report for NM_001034853.2(RPGR):c.3255del (p.Glu1084_Tyr1085insTer)]

NM_001034853.2(RPGR):c.3255del (p.Glu1084_Tyr1085insTer)

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.3255del (p.Glu1084_Tyr1085insTer)
HGVS:
  • NC_000023.11:g.38285744del
  • NG_009553.1:g.46792del
  • NM_000328.3:c.1905+1350del
  • NM_001034853.2:c.3255delMANE SELECT
  • NM_001367245.1:c.1902+1350del
  • NM_001367246.1:c.1719+1350del
  • NM_001367247.1:c.1572+5215del
  • NM_001367248.1:c.1602+5215del
  • NM_001367249.1:c.1569+5215del
  • NM_001367250.1:c.1569+5215del
  • NM_001367251.1:c.1386+5215del
  • NP_001030025.1:p.Glu1084_Tyr1085insTer
  • NC_000023.10:g.38144997del
  • NM_001034853.1:c.3255del
Links:
dbSNP: rs2067115815
NCBI 1000 Genomes Browser:
rs2067115815
Molecular consequence:
  • NM_000328.3:c.1905+1350del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367245.1:c.1902+1350del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367246.1:c.1719+1350del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367247.1:c.1572+5215del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367248.1:c.1602+5215del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367249.1:c.1569+5215del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367250.1:c.1569+5215del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367251.1:c.1386+5215del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001034853.2:c.3255del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002770175GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Jun 18, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV002770175.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Nonsense variant predicted to result in protein truncation as the last 68 amino acids are lost, although loss-of-function variants have not been reported downstream of this position in the protein; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 31, 2022