NM_001029883.3(PCARE):c.3673_3675dupAGC AND Retinitis pigmentosa 54

Germline classification:
Benign (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000986607.10

Allele description [Variation Report for NM_001029883.3(PCARE):c.3673_3675dupAGC]

NM_001029883.3(PCARE):c.3673_3675dupAGC

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.3673_3675dupAGC
HGVS:
  • NC_000002.12:g.29065063TGC[4]
  • NG_021427.1:g.14193AGC[4]
  • NG_094846.1:g.35TGC[4]
  • NM_001029883.3:c.3673_3675dupAGCMANE SELECT
  • NC_000002.11:g.29287926_29287927insGCT
  • NC_000002.11:g.29287929TGC[4]
  • NM_001029883.2:c.3673_3675dupAGC
  • NM_001029883.3:c.3673_3675dupMANE SELECT
Links:
Molecular consequence:
  • NM_001029883.3:c.3673_3675dupAGC - splice acceptor variant - [Sequence Ontology: SO:0001574]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001135644Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Benign
(May 28, 2019) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Mendelics, SCV001135644.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024