NM_001029883.3(PCARE):c.3289C>T (p.Gln1097Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jun 17, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001205031.3

Allele description [Variation Report for NM_001029883.3(PCARE):c.3289C>T (p.Gln1097Ter)]

NM_001029883.3(PCARE):c.3289C>T (p.Gln1097Ter)

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.3289C>T (p.Gln1097Ter)
HGVS:
  • NC_000002.12:g.29070973G>A
  • NG_021427.1:g.8289C>T
  • NM_001029883.3:c.3289C>TMANE SELECT
  • NP_001025054.1:p.Gln1097Ter
  • NC_000002.11:g.29293839G>A
  • NM_001029883.2:c.3289C>T
Protein change:
Q1097*
Links:
dbSNP: rs369937337
NCBI 1000 Genomes Browser:
rs369937337
Molecular consequence:
  • NM_001029883.3:c.3289C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001376267Invitaecriteria provided, single submitter
Pathogenic
(Jan 28, 2020)
germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

SCV001762218Institute of Medical Genetics and Applied Genomics, University Hospital Tübingencriteria provided, single submitter
Pathogenic
(Jun 17, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot provided1not providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.

Beryozkin A, Shevah E, Kimchi A, Mizrahi-Meissonnier L, Khateb S, Ratnapriya R, Lazar CH, Blumenfeld A, Ben-Yosef T, Hemo Y, Pe'er J, Averbuch E, Sagi M, Boleda A, Gieser L, Zlotogorski A, Falik-Zaccai T, Alimi-Kasem O, Jacobson SG, Chowers I, Swaroop A, Banin E, et al.

Sci Rep. 2015 Aug 26;5:13187. doi: 10.1038/srep13187.

PubMed [citation]
PMID:
26306921
PMCID:
PMC4549705

A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome.

Khateb S, Zelinger L, Mizrahi-Meissonnier L, Ayuso C, Koenekoop RK, Laxer U, Gross M, Banin E, Sharon D.

J Med Genet. 2014 Jul;51(7):460-9. doi: 10.1136/jmedgenet-2014-102287. Epub 2014 Apr 29.

PubMed [citation]
PMID:
24780881
See all PubMed Citations (7)

Details of each submission

From Invitae, SCV001376267.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

This sequence change creates a premature translational stop signal (p.Gln1097*) in the PCARE gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs369937337, ExAC 0.02%). This variant has been observed in individuals affected with retinitis pigmentosa (PMID: 26306921, 24780881). This gene is also known as C2Orf71 in the literature. Loss-of-function variants in PCARE are known to be pathogenic (PMID: 20398886, 24339724, 26496393). For these reasons, this variant has been classified as Pathogenic.

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

From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV001762218.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2021

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