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NM_006445.4(PRPF8):c.6930G>C (p.Arg2310Ser) AND Retinitis pigmentosa 13

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 2, 2011
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:
RCV000023644.3

Allele description [Variation Report for NM_006445.4(PRPF8):c.6930G>C (p.Arg2310Ser)]

NM_006445.4(PRPF8):c.6930G>C (p.Arg2310Ser)

Gene:
PRPF8:pre-mRNA processing factor 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.3
Genomic location:
Preferred name:
NM_006445.4(PRPF8):c.6930G>C (p.Arg2310Ser)
Other names:
R2310S
HGVS:
  • NC_000017.11:g.1650880C>G
  • NG_009118.1:g.39003G>C
  • NG_033061.1:g.4219G>C
  • NM_006445.4:c.6930G>CMANE SELECT
  • NP_006436.3:p.Arg2310Ser
  • NC_000017.10:g.1554174C>G
Protein change:
ARG2310SER
Links:
OMIM: 607300.0007; dbSNP: rs1911001854
NCBI 1000 Genomes Browser:
rs1911001854
Molecular consequence:
  • NM_006445.4:c.6930G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Retinitis pigmentosa 13 (RP13)
Synonyms:
RP 13; PRPF 8-Related Retinitis Pigmentosa
Identifiers:
MONDO: MONDO:0010806; MedGen: C1838702; Orphanet: 791; OMIM: 600059

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000044935OMIM
no assertion criteria provided
Pathogenic
(Dec 2, 2011) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.

Maubaret CG, Vaclavik V, Mukhopadhyay R, Waseem NH, Churchill A, Holder GE, Moore AT, Bhattacharya SS, Webster AR.

Invest Ophthalmol Vis Sci. 2011 Dec 2;52(13):9304-9. doi: 10.1167/iovs.11-8372.

PubMed [citation]
PMID:
22039234

Details of each submission

From OMIM, SCV000044935.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In the proband of a 3-generation British family with autosomal dominant retinitis pigmentosa (RP13; 600059), Maubaret et al. (2011) reported a 6930G-C transversion in exon 42 of the PRPF8 gene, resulting in an arg2310-to-ser substitution (R2310S).

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

Last Updated: May 7, 2024