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NM_006445.4(PRPF8):c.5619+2T>C AND Retinitis pigmentosa 14

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 4, 2020
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:
RCV001199404.1

Allele description

NM_006445.4(PRPF8):c.5619+2T>C

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.5619+2T>C
HGVS:
  • NC_000017.11:g.1656646A>G
  • NG_009118.1:g.33237T>C
  • NM_006445.4:c.5619+2T>CMANE SELECT
  • NC_000017.10:g.1559940A>G
Links:
dbSNP: rs1911406583
NCBI 1000 Genomes Browser:
rs1911406583
Molecular consequence:
  • NM_006445.4:c.5619+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

Name:
Retinitis pigmentosa 14 (RP14)
Synonyms:
RETINITIS PIGMENTOSA, JUVENILE, TULP1-RELATED; RP 14
Identifiers:
MONDO: MONDO:0010827; MedGen: C1838603; Orphanet: 791; OMIM: 600132

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001334295Medical Genetics Lab, Policlinico S. Orsola.Malpighi
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jun 4, 2020) 		maternalclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Italianmaternalyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Medical Genetics Lab, Policlinico S. Orsola.Malpighi, SCV001334295.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Italian1not providednot providedclinical testingnot provided

Description

This c.5619+2T>C PRPF8 variant was identified in an adult patient with cone-rod dystrophy and in his unaffected mother. This patient was found to carry two pathogenic variant in TULP1 (in trans), which were interpreted as pathogenic. The c.5619+2T>C variant in PRPF8 is absent in GnomAD, is predicted to affect splicing and likely causes loss of function. PRPF8 variants are a known cause of autosomal dominant retinitis pigmentosa, but pathogenic variants cluster in a C-terminal domain (in the last exon) and are "gain of function" mutations. Considering that the c.5619+2T>C variant was transmitted by a healthy individual and that PRPF8 haploinsufficiency is not a know mechanism of disease at the moment, we classify this variant as of uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jan 13, 2025