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NM_001034853.2(RPGR):c.2606_2620del (p.Glu869_Glu873del) AND X-linked cone-rod dystrophy 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 1, 2021
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:
RCV003389467.1

Allele description [Variation Report for NM_001034853.2(RPGR):c.2606_2620del (p.Glu869_Glu873del)]

NM_001034853.2(RPGR):c.2606_2620del (p.Glu869_Glu873del)

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.2606_2620del (p.Glu869_Glu873del)
HGVS:
  • NC_000023.11:g.38286380_38286394del
  • NG_009553.1:g.46143_46157del
  • NM_000328.3:c.1905+701_1905+715del
  • NM_001034853.2:c.2606_2620delMANE SELECT
  • NM_001367245.1:c.1902+701_1902+715del
  • NM_001367246.1:c.1719+701_1719+715del
  • NM_001367247.1:c.1572+4566_1572+4580del
  • NM_001367248.1:c.1602+4566_1602+4580del
  • NM_001367249.1:c.1569+4566_1569+4580del
  • NM_001367250.1:c.1569+4566_1569+4580del
  • NM_001367251.1:c.1386+4566_1386+4580del
  • NP_001030025.1:p.Glu869_Glu873del
  • NC_000023.10:g.38145632_38145646del
  • NC_000023.10:g.38145633_38145647del
  • NM_000328.2:c.1905+701_1905+715del
  • NM_000328.2:c.1905+701_1905+715delAAGAAGGGGAGGAAG
  • NM_001034853.1:c.2606_2620del
Links:
dbSNP: rs200824587
NCBI 1000 Genomes Browser:
rs200824587
Molecular consequence:
  • NM_001034853.2:c.2606_2620del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_000328.3:c.1905+701_1905+715del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367245.1:c.1902+701_1902+715del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367246.1:c.1719+701_1719+715del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367247.1:c.1572+4566_1572+4580del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367248.1:c.1602+4566_1602+4580del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367249.1:c.1569+4566_1569+4580del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367250.1:c.1569+4566_1569+4580del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367251.1:c.1386+4566_1386+4580del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
X-linked cone-rod dystrophy 1 (CORDX1)
Identifiers:
MONDO: MONDO:0010566; MedGen: C1844776; Orphanet: 1872; OMIM: 304020

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004101765DBGen Ocular Genomics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 1, 2021) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From DBGen Ocular Genomics, SCV004101765.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Class 3 ACMG Guidelines, 2015

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providedBloodnot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024