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NM_000322.5(PRPH2):c.330del (p.Ile111fs) AND PRPH2-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 19, 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:
RCV002870716.3

Allele description [Variation Report for NM_000322.5(PRPH2):c.330del (p.Ile111fs)]

NM_000322.5(PRPH2):c.330del (p.Ile111fs)

Gene:
PRPH2:peripherin 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_000322.5(PRPH2):c.330del (p.Ile111fs)
HGVS:
  • NC_000006.12:g.42722005del
  • NG_009176.2:g.5616del
  • NM_000322.5:c.330delMANE SELECT
  • NP_000313.2:p.Ile111fs
  • NC_000006.11:g.42689743del
Protein change:
I111fs
Molecular consequence:
  • NM_000322.5:c.330del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
PRPH2-related disorder
Synonyms:
PRPH2-Related Disorders; PRPH2-related condition
Identifiers:
MedGen: CN239395

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003221390Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jul 19, 2022) 		germlineclinical testing

PubMed (11)
[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

Heterozygous 'null allele' mutation in the human peripherin/RDS gene.

Meins M, Grüning G, Blankenagel A, Krastel H, Reck B, Fuchs S, Schwinger E, Gal A.

Hum Mol Genet. 1993 Dec;2(12):2181-2. No abstract available.

PubMed [citation]
PMID:
8111389

A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens.

Kajiwara K, Sandberg MA, Berson EL, Dryja TP.

Nat Genet. 1993 Mar;3(3):208-12.

PubMed [citation]
PMID:
8485575
See all PubMed Citations (11)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003221390.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (11)

Description

This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with PRPH2-related conditions. This sequence change creates a premature translational stop signal (p.Ile111Serfs*28) in the PRPH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PRPH2 are known to be pathogenic (PMID: 8111389, 8485575, 8485576, 8675410, 16916875, 17504850, 25675413, 26061163, 27365499, 29555955).

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

Last Updated: Sep 29, 2024