U.S. flag

An official website of the United States government

NM_001034853.2(RPGR):c.2601_2602del (p.Glu868fs) AND Retinal dystrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 6, 2018
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:
RCV001075056.3

Allele description [Variation Report for NM_001034853.2(RPGR):c.2601_2602del (p.Glu868fs)]

NM_001034853.2(RPGR):c.2601_2602del (p.Glu868fs)

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.2601_2602del (p.Glu868fs)
HGVS:
  • NC_000023.11:g.38286399_38286400del
  • NG_009553.1:g.46138_46139del
  • NM_000328.3:c.1905+696_1905+697del
  • NM_001034853.2:c.2601_2602delMANE SELECT
  • NM_001367245.1:c.1902+696_1902+697del
  • NM_001367246.1:c.1719+696_1719+697del
  • NM_001367247.1:c.1572+4561_1572+4562del
  • NM_001367248.1:c.1602+4561_1602+4562del
  • NM_001367249.1:c.1569+4561_1569+4562del
  • NM_001367250.1:c.1569+4561_1569+4562del
  • NM_001367251.1:c.1386+4561_1386+4562del
  • NP_001030025.1:p.Glu868fs
  • NC_000023.10:g.38145650_38145651del
  • NC_000023.10:g.38145652_38145653del
  • NM_001034853.1:c.2601_2602del
Protein change:
E868fs
Links:
dbSNP: rs2067169934
NCBI 1000 Genomes Browser:
rs2067169934
Molecular consequence:
  • NM_001034853.2:c.2601_2602del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_000328.3:c.1905+696_1905+697del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367245.1:c.1902+696_1902+697del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367246.1:c.1719+696_1719+697del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367247.1:c.1572+4561_1572+4562del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367248.1:c.1602+4561_1602+4562del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367249.1:c.1569+4561_1569+4562del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367250.1:c.1569+4561_1569+4562del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367251.1:c.1386+4561_1386+4562del - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001240667Blueprint Genetics
criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)		Pathogenic
(Jun 6, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV001240667.1

#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: Oct 26, 2024