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NM_001029883.3(PCARE):c.2950C>T (p.Arg984Ter) 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:
RCV001002901.1

Allele description [Variation Report for NM_001029883.3(PCARE):c.2950C>T (p.Arg984Ter)]

NM_001029883.3(PCARE):c.2950C>T (p.Arg984Ter)

Gene:
PCARE:photoreceptor cilium actin regulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.2
Genomic location:
Preferred name:
NM_001029883.3(PCARE):c.2950C>T (p.Arg984Ter)
HGVS:
  • NC_000002.12:g.29071312G>A
  • NG_021427.1:g.7950C>T
  • NM_001029883.3:c.2950C>TMANE SELECT
  • NP_001025054.1:p.Arg984Ter
  • NC_000002.11:g.29294178G>A
  • NC_000002.11:g.29294178G>A
  • NM_001029883.2:c.2950C>T
Protein change:
R984*
Links:
dbSNP: rs774215025
NCBI 1000 Genomes Browser:
rs774215025
Molecular consequence:
  • NM_001029883.3:c.2950C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV001160936Sharon 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, SCV001160936.1

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

Last Updated: Nov 3, 2024