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NM_005802.5(TOPORS):c.2524dup (p.Thr842fs) 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:
RCV001003229.1

Allele description [Variation Report for NM_005802.5(TOPORS):c.2524dup (p.Thr842fs)]

NM_005802.5(TOPORS):c.2524dup (p.Thr842fs)

Gene:
TOPORS:TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
9p21.1
Genomic location:
Preferred name:
NM_005802.5(TOPORS):c.2524dup (p.Thr842fs)
HGVS:
  • NC_000009.12:g.32542001dup
  • NG_017050.1:g.15624dup
  • NM_001195622.2:c.2329dup
  • NM_005802.5:c.2524dupMANE SELECT
  • NP_001182551.1:p.Thr777fs
  • NP_005793.2:p.Thr842fs
  • NC_000009.11:g.32541999dup
  • NM_005802.4:c.2524dup
  • NM_005802.5:c.2524dupAMANE SELECT
Protein change:
T777fs
Links:
dbSNP: rs1587620892
NCBI 1000 Genomes Browser:
rs1587620892
Molecular consequence:
  • NM_001195622.2:c.2329dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_005802.5:c.2524dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001161308Sharon 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, SCV001161308.1

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

Last Updated: Jun 23, 2024