NM_001029883.3(PCARE):c.3264_3266del (p.Pro1089del) AND Retinitis pigmentosa 54

Germline classification:: Benign (1 submission)
Last evaluated:: Nov 8, 2023
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:: RCV003597962.1

Allele description [Variation Report for NM_001029883.3(PCARE):c.3264_3266del (p.Pro1089del)]

NM_001029883.3(PCARE):c.3264_3266del (p.Pro1089del)

Gene:

PCARE:photoreceptor cilium actin regulator [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2p23.2

Genomic location:

Preferred name:

NM_001029883.3(PCARE):c.3264_3266del (p.Pro1089del)

HGVS:

NC_000002.11:g.29293862_29293864del
NC_000002.12:g.29070997_29070999del
NG_021427.1:g.8264_8266del
NM_001029883.3:c.3264_3266delMANE SELECT
NP_001025054.1:p.Pro1089del
NC_000002.11:g.29293862_29293864del
NC_000002.11:g.29293863_29293865del
NC_000002.11:g.29293863_29293865del
NC_000002.11:g.29293863_29293865delGGG
NM_001029883.2:c.3264_3266del
NM_001029883.2:c.3264_3266delCCC

Protein change:

P1089del

Links:

dbSNP: rs138020654

NCBI 1000 Genomes Browser:

rs138020654

Molecular consequence:

NM_001029883.3:c.3264_3266del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001157186	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Benign (Nov 8, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001157186

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)

Benign
(Nov 8, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001157186.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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