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NM_000322.5(PRPH2):c.276dup (p.Arg93fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 6, 2021
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:
RCV001530218.2

Allele description [Variation Report for NM_000322.5(PRPH2):c.276dup (p.Arg93fs)]

NM_000322.5(PRPH2):c.276dup (p.Arg93fs)

Gene:
PRPH2:peripherin 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_000322.5(PRPH2):c.276dup (p.Arg93fs)
HGVS:
  • NC_000006.12:g.42722060dup
  • NG_009176.2:g.5562dup
  • NM_000322.5:c.276dupMANE SELECT
  • NP_000313.2:p.Arg93fs
  • NC_000006.11:g.42689798dup
  • NG_009176.1:g.5562dup
Protein change:
R93fs
Links:
dbSNP: rs1582780842
NCBI 1000 Genomes Browser:
rs1582780842
Molecular consequence:
  • NM_000322.5:c.276dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001744940Leiden Open Variation Database
no assertion criteria provided
Pathogenic
(Apr 6, 2021) 		germlinecuration

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Jespersgaard C, Fang M, Bertelsen M, Dang X, Jensen H, Chen Y, Bech N, Dai L, Rosenberg T, Zhang J, Møller LB, Tümer Z, Brøndum-Nielsen K, Grønskov K.

Sci Rep. 2019 Feb 4;9(1):1219. doi: 10.1038/s41598-018-38007-2.

PubMed [citation]
PMID:
30718709
PMCID:
PMC6362094

Details of each submission

From Leiden Open Variation Database, SCV001744940.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters.

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

Last Updated: Sep 3, 2023