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NM_001029883.3(PCARE):c.3541_3542del (p.Leu1181fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 25, 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:
RCV002041920.3

Allele description [Variation Report for NM_001029883.3(PCARE):c.3541_3542del (p.Leu1181fs)]

NM_001029883.3(PCARE):c.3541_3542del (p.Leu1181fs)

Gene:
PCARE:photoreceptor cilium actin regulator [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
2p23.2
Genomic location:
Preferred name:
NM_001029883.3(PCARE):c.3541_3542del (p.Leu1181fs)
HGVS:
  • NC_000002.12:g.29070720AG[1]
  • NG_021427.1:g.8539CT[1]
  • NM_001029883.3:c.3541_3542delMANE SELECT
  • NP_001025054.1:p.Leu1181fs
  • NC_000002.11:g.29293586AG[1]
  • NC_000002.11:g.29293586_29293587del
Protein change:
L1181fs
Links:
dbSNP: rs2148414753
NCBI 1000 Genomes Browser:
rs2148414753
Molecular consequence:
  • NM_001029883.3:c.3541_3542del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002110884Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 25, 2021) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

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

Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations.

Bocquet B, Marzouka NA, Hebrard M, Manes G, Sénéchal A, Meunier I, Hamel CP.

Mol Vis. 2013;19:2487-500.

PubMed [citation]
PMID:
24339724
PMCID:
PMC3857159
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV002110884.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with PCARE-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu1181Valfs*15) in the PCARE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PCARE are known to be pathogenic (PMID: 20398886, 24339724, 26496393).

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

Last Updated: Feb 28, 2024