NM_001029883.3(PCARE):c.2967del (p.Val990fs) AND Autosomal recessive retinitis pigmentosa

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 8, 2019
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001257875.1

Allele description [Variation Report for NM_001029883.3(PCARE):c.2967del (p.Val990fs)]

NM_001029883.3(PCARE):c.2967del (p.Val990fs)

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.2967del (p.Val990fs)

HGVS:

NC_000002.12:g.29071295del
NG_021427.1:g.7967del
NM_001029883.3:c.2967delMANE SELECT
NP_001025054.1:p.Val990fs
NC_000002.11:g.29294161del
NM_001029883.2:c.2967del
NM_001029883.2:c.2967delT
p.(Val990Trpfs*45)

Protein change:

V990fs

Links:

dbSNP: rs1667476173

NCBI 1000 Genomes Browser:

rs1667476173

Molecular consequence:

NM_001029883.3:c.2967del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Autosomal recessive retinitis pigmentosa
Identifiers:: MedGen: C0339526

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001434626	Faculty of Health Sciences, Beirut Arab University	no assertion criteria provided	Pathogenic (Nov 8, 2019)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001434626

Faculty of Health Sciences, Beirut Arab University

no assertion criteria provided

Pathogenic
(Nov 8, 2019)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Arab	germline	yes	1	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

PHENOTYPE-GUIDED GENETIC TESTING OF PEDIATRIC INHERITED RETINAL DISEASE IN THE UNITED ARAB EMIRATES.

Khan AO.

Retina. 2020 Sep;40(9):1829-1837. doi: 10.1097/IAE.0000000000002675.

PubMed [citation]

PMID:: 31725702

Details of each submission

From Faculty of Health Sciences, Beirut Arab University, SCV001434626.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Arab	1	not provided	not provided	literature only	PubMed (1)

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

Last Updated: Oct 13, 2024

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