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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000044935	OMIM	no assertion criteria provided	Pathogenic (Dec 2, 2011)	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

SCV000044935

OMIM

no assertion criteria provided

Pathogenic
(Dec 2, 2011)

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
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature 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).

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

Last Updated: Sep 29, 2024

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