NM_001029883.3(PCARE):c.601A>T (p.Ile201Phe) AND Retinitis pigmentosa 54

Clinical significance:Pathogenic (Last evaluated: May 14, 2010)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000000122.4

Allele description [Variation Report for NM_001029883.3(PCARE):c.601A>T (p.Ile201Phe)]

NM_001029883.3(PCARE):c.601A>T (p.Ile201Phe)

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.601A>T (p.Ile201Phe)
HGVS:
  • NC_000002.12:g.29073661T>A
  • NG_021427.1:g.5601A>T
  • NM_001029883.3:c.601A>TMANE SELECT
  • NP_001025054.1:p.Ile201Phe
  • A6NGG8:p.Ile201Phe
  • NC_000002.11:g.29296527T>A
Protein change:
I201F; ILE201PHE
Links:
UniProtKB: A6NGG8#VAR_063395; OMIM: 613425.0002; dbSNP: rs267606690
NCBI 1000 Genomes Browser:
rs267606690
Molecular consequence:
  • NM_001029883.3:c.601A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Retinitis pigmentosa 54 (RP54)
Identifiers:
MONDO: MONDO:0013263; MedGen: C3150691; Orphanet: 791; OMIM: 613428

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000020265OMIMno assertion criteria providedPathogenic
(May 14, 2010)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.

Nishimura DY, Baye LM, Perveen R, Searby CC, Avila-Fernandez A, Pereiro I, Ayuso C, Valverde D, Bishop PN, Manson FD, Urquhart J, Stone EM, Slusarski DC, Black GC, Sheffield VC.

Am J Hum Genet. 2010 May 14;86(5):686-95. doi: 10.1016/j.ajhg.2010.03.005. Epub 2010 Apr 15.

PubMed [citation]
PMID:
20398886
PMCID:
PMC2868997

Details of each submission

From OMIM, SCV000020265.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a man with retinitis pigmentosa (RP54; 613428) from a consanguineous family, Nishimura et al. (2010) identified homozygosity for a 601A-T transversion in the C2ORF71 gene, resulting in an ile201-to-phe (I201F) substitution at an evolutionarily conserved residue. The mutation was present in heterozygosity in 3 unaffected family members, but it was not detected in 192 controls, including 102 ethnically matched controls.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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