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NM_001029883.3(PCARE):c.1844T>A (p.Val615Asp) AND Retinitis pigmentosa

Germline classification:
Likely 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:
RCV001141532.4

Allele description [Variation Report for NM_001029883.3(PCARE):c.1844T>A (p.Val615Asp)]

NM_001029883.3(PCARE):c.1844T>A (p.Val615Asp)

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.1844T>A (p.Val615Asp)
HGVS:
  • NC_000002.12:g.29072418A>T
  • NG_021427.1:g.6844T>A
  • NM_001029883.3:c.1844T>AMANE SELECT
  • NP_001025054.1:p.Val615Asp
  • NC_000002.11:g.29295284A>T
  • NM_001029883.2:c.1844T>A
Protein change:
V615D
Links:
dbSNP: rs140776870
NCBI 1000 Genomes Browser:
rs140776870
Molecular consequence:
  • NM_001029883.3:c.1844T>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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001301884Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Likely benign
(Apr 27, 2017) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

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

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001301884.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

Last Updated: May 12, 2024