NM_001029883.3(PCARE):c.2875G>A (p.Ala959Thr) AND Retinitis pigmentosa

Germline classification:: Benign (1 submission)
Last evaluated:: Apr 27, 2017
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:: RCV001143260.4

Allele description [Variation Report for NM_001029883.3(PCARE):c.2875G>A (p.Ala959Thr)]

NM_001029883.3(PCARE):c.2875G>A (p.Ala959Thr)

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.2875G>A (p.Ala959Thr)

HGVS:

NC_000002.12:g.29071387C>T
NG_021427.1:g.7875G>A
NM_001029883.3:c.2875G>AMANE SELECT
NP_001025054.1:p.Ala959Thr
A6NGG8:p.Ala959Thr
NC_000002.11:g.29294253C>T
NM_001029883.2:c.2875G>A

Protein change:

A959T

Links:

UniProtKB: A6NGG8#VAR_065282; dbSNP: rs192350796

NCBI 1000 Genomes Browser:

rs192350796

Molecular consequence:

NM_001029883.3:c.2875G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Retinitis pigmentosa (RP)
Synonyms:: Tapetoretinal degeneration
Identifiers:: MONDO: MONDO:0019200; MeSH: D012174; MedGen: C0035334; Orphanet: 791; OMIM: 268000; OMIM: PS268000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001303768	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Benign (Apr 27, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 21412943, 20811058 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001303768

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Benign
(Apr 27, 2017)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

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

Citations

PubMed

Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort.

Audo I, Lancelot ME, Mohand-Saïd S, Antonio A, Germain A, Sahel JA, Bhattacharya SS, Zeitz C.

Hum Mutat. 2011 Apr;32(4):E2091-103. doi: 10.1002/humu.21460. Epub 2011 Feb 8.

PubMed [citation]

PMID:: 21412943

A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls.

Sergouniotis PI, Li Z, Mackay DS, Wright GA, Borman AD, Devery SR, Moore AT, Webster AR.

Invest Ophthalmol Vis Sci. 2011 Mar 30;52(3):1880-6. doi: 10.1167/iovs.10-6043.

PubMed [citation]

PMID:: 20811058

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001303768.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

#	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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