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NM_001034853.2(RPGR):c.2772_2773dup (p.Gly925fs) AND Retinitis pigmentosa

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 23, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001003194.1

Allele description [Variation Report for NM_001034853.2(RPGR):c.2772_2773dup (p.Gly925fs)]

NM_001034853.2(RPGR):c.2772_2773dup (p.Gly925fs)

Gene:
RPGR:retinitis pigmentosa GTPase regulator [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xp11.4
Genomic location:
Preferred name:
NM_001034853.2(RPGR):c.2772_2773dup (p.Gly925fs)
HGVS:
  • NC_000023.11:g.38286226_38286227dup
  • NG_009553.1:g.46309_46310dup
  • NM_000328.3:c.1905+867_1905+868dup
  • NM_001034853.2:c.2772_2773dupMANE SELECT
  • NM_001367245.1:c.1902+867_1902+868dup
  • NM_001367246.1:c.1719+867_1719+868dup
  • NM_001367247.1:c.1572+4732_1572+4733dup
  • NM_001367248.1:c.1602+4732_1602+4733dup
  • NM_001367249.1:c.1569+4732_1569+4733dup
  • NM_001367250.1:c.1569+4732_1569+4733dup
  • NM_001367251.1:c.1386+4732_1386+4733dup
  • NP_001030025.1:p.Gly925fs
  • NC_000023.10:g.38145479_38145480dup
  • NM_001034853.1:c.2772_2773dup
Protein change:
G925fs
Links:
dbSNP: rs1601920599
NCBI 1000 Genomes Browser:
rs1601920599
Molecular consequence:
  • NM_001034853.2:c.2772_2773dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_000328.3:c.1905+867_1905+868dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367245.1:c.1902+867_1902+868dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367246.1:c.1719+867_1719+868dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367247.1:c.1572+4732_1572+4733dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367248.1:c.1602+4732_1602+4733dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367249.1:c.1569+4732_1569+4733dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367250.1:c.1569+4732_1569+4733dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367251.1:c.1386+4732_1386+4733dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Retinitis pigmentosa (RP)
Synonyms:
Tapetoretinal degeneration
Identifiers:
MONDO: MONDO:0019200; MeSH: D012174; MedGen: C0035334; Orphanet: 791; OMIM: 268000; OMIM: PS268000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001161271Sharon lab, Hadassah-Hebrew University Medical Center
no assertion criteria provided
Pathogenic
(Jun 23, 2019) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Sharon lab, Hadassah-Hebrew University Medical Center, SCV001161271.1

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

Last Updated: Apr 23, 2022