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NM_000322.5(PRPH2):c.418_421dup (p.Tyr141fs) 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:
RCV001530288.1

Allele description [Variation Report for NM_000322.5(PRPH2):c.418_421dup (p.Tyr141fs)]

NM_000322.5(PRPH2):c.418_421dup (p.Tyr141fs)

Gene:
PRPH2:peripherin 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_000322.5(PRPH2):c.418_421dup (p.Tyr141fs)
HGVS:
  • NC_000006.12:g.42721914_42721917dup
  • NG_009176.1:g.5704_5707dup
  • NG_009176.2:g.5704_5707dup
  • NM_000322.5:c.418_421dupMANE SELECT
  • NP_000313.2:p.Tyr141fs
  • NC_000006.11:g.42689652_42689655dup
  • NM_000322.4:c.418_421dup
Note:
NCBI staff reviewed the sequence information reported in PubMed 8004111 Fig. 1 to determine the location of this allele on the current reference sequence.
Protein change:
Y141fs
Links:
OMIM: 179605.0013; dbSNP: rs672601326
NCBI 1000 Genomes Browser:
rs672601326
Molecular consequence:
  • NM_000322.5:c.418_421dup - 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
SCV001745046Leiden Open Variation Database
no assertion criteria provided
Pathogenic
(Apr 6, 2021) 		germlinecuration

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene.

Kim RY, Dollfus H, Keen TJ, Fitzke FW, Arden GB, Bhattacharya SS, Bird AC.

Arch Ophthalmol. 1995 Apr;113(4):451-5.

PubMed [citation]
PMID:
7710395

Retinal pattern dystrophy associated with a 4 bp insertion at codon 140 in the RDS-peripherin gene.

Keen TJ, Inglehearn CF, Kim R, Bird AC, Bhattacharya S.

Hum Mol Genet. 1994 Feb;3(2):367-8. No abstract available.

PubMed [citation]
PMID:
8004111

Details of each submission

From Leiden Open Variation Database, SCV001745046.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)

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: Apr 23, 2022