NM_006445.4(PRPF8):c.6941T>C (p.Phe2314Ser) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 9, 2022
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:: RCV001297310.4

Allele description [Variation Report for NM_006445.4(PRPF8):c.6941T>C (p.Phe2314Ser)]

NM_006445.4(PRPF8):c.6941T>C (p.Phe2314Ser)

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.6941T>C (p.Phe2314Ser)

HGVS:

NC_000017.11:g.1650869A>G
NG_009118.1:g.39014T>C
NG_033061.1:g.4230T>C
NM_006445.4:c.6941T>CMANE SELECT
NP_006436.3:p.Phe2314Ser
NC_000017.10:g.1554163A>G

Protein change:

F2314S

Links:

dbSNP: rs1911000944

NCBI 1000 Genomes Browser:

rs1911000944

Molecular consequence:

NM_006445.4:c.6941T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

ACSF3 [Desmodus rotundus]
ACSF3 [Desmodus rotundus]
Gene ID:112300687

Gene
LOC110508309 [Oncorhynchus mykiss]
LOC110508309 [Oncorhynchus mykiss]
Gene ID:110508309

Gene
AFUA_4G03000 [Aspergillus fumigatus Af293]
AFUA_4G03000 [Aspergillus fumigatus Af293]
Gene ID:3503855

Gene

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001486318	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely pathogenic (Jun 9, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 11468273, 31087526, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001486318

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely pathogenic
(Jun 9, 2022)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).

McKie AB, McHale JC, Keen TJ, Tarttelin EE, Goliath R, van Lith-Verhoeven JJ, Greenberg J, Ramesar RS, Hoyng CB, Cremers FP, Mackey DA, Bhattacharya SS, Bird AC, Markham AF, Inglehearn CF.

Hum Mol Genet. 2001 Jul 15;10(15):1555-62.

PubMed [citation]

PMID:: 11468273

The genetic aetiology of retinal degeneration in children in Finland - new founder mutations identified.

Avela K, Salonen-Kajander R, Laitinen A, Ramsden S, Barton S, Rudanko SL.

Acta Ophthalmol. 2019 Dec;97(8):805-814. doi: 10.1111/aos.14128. Epub 2019 May 14.

PubMed [citation]

PMID:: 31087526

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001486318.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 2314 of the PRPF8 protein (p.Phe2314Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with retinitis pigmentosa (Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1001079). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant disrupts the p.Phe2314 amino acid residue in PRPF8. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11468273, 31087526). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

#	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

ClinVar

Relating variation to medicine