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NM_015629.4(PRPF31):c.1040del (p.Leu347fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 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:
RCV001862567.3

Allele description [Variation Report for NM_015629.4(PRPF31):c.1040del (p.Leu347fs)]

NM_015629.4(PRPF31):c.1040del (p.Leu347fs)

Gene:
PRPF31:pre-mRNA processing factor 31 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19q13.42
Genomic location:
Preferred name:
NM_015629.4(PRPF31):c.1040del (p.Leu347fs)
HGVS:
  • NC_000019.10:g.54128167del
  • NG_009759.1:g.17753del
  • NM_015629.4:c.1040delMANE SELECT
  • NP_056444.3:p.Leu347fs
  • NC_000019.9:g.54631542del
  • NC_000019.9:g.54631542del
  • NM_015629.3:c.1040del
Protein change:
L347fs
Links:
dbSNP: rs2073964314
NCBI 1000 Genomes Browser:
rs2073964314
Molecular consequence:
  • NM_015629.4:c.1040del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002182097Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Nov 1, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.

Rio Frio T, Wade NM, Ransijn A, Berson EL, Beckmann JS, Rivolta C.

J Clin Invest. 2008 Apr;118(4):1519-31. doi: 10.1172/JCI34211.

PubMed [citation]
PMID:
18317597
PMCID:
PMC2262031

Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa.

Sullivan LS, Bowne SJ, Reeves MJ, Blain D, Goetz K, Ndifor V, Vitez S, Wang X, Tumminia SJ, Daiger SP.

Invest Ophthalmol Vis Sci. 2013 Sep 19;54(9):6255-61. doi: 10.1167/iovs.13-12605.

PubMed [citation]
PMID:
23950152
PMCID:
PMC3778873
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV002182097.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 866533). This variant has not been reported in the literature in individuals affected with PRPF31-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu347Argfs*16) in the PRPF31 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PRPF31 are known to be pathogenic (PMID: 18317597, 23950152).

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

Last Updated: Mar 5, 2024