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NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp) AND Retinitis pigmentosa

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 28, 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:
RCV001165229.5

Allele description [Variation Report for NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp)]

NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp)

Gene:
PRPH2:peripherin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp)
HGVS:
  • NC_000006.12:g.42722298G>A
  • NG_009176.2:g.5323C>T
  • NM_000322.5:c.37C>TMANE SELECT
  • NP_000313.2:p.Arg13Trp
  • NC_000006.11:g.42690036G>A
  • NG_009176.1:g.5323C>T
  • NM_000322.4:c.37C>T
Protein change:
R13W
Links:
dbSNP: rs61754402
NCBI 1000 Genomes Browser:
rs61754402
Molecular consequence:
  • NM_000322.5:c.37C>T - 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
SCV001327405Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Benign
(Apr 28, 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

Photoreceptor function in heterozygotes with insertion or deletion mutations in the RDS gene.

Jacobson SG, Cideciyan AV, Kemp CM, Sheffield VC, Stone EM.

Invest Ophthalmol Vis Sci. 1996 Jul;37(8):1662-74.

PubMed [citation]
PMID:
8675410

Preferential rod and cone photoreceptor abnormalities in heterozygotes with point mutations in the RDS gene.

Jacobson SG, Cideciyan AV, Maguire AM, Bennett J, Sheffield VC, Stone EM.

Exp Eye Res. 1996 Nov;63(5):603-8. No abstract available.

PubMed [citation]
PMID:
8994365

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001327405.1

#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 rule this variant out of causing disease. Therefore, this variant is classified as benign.

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

Last Updated: Nov 3, 2024