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NM_000329.3(RPE65):c.893del (p.Lys298fs) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Apr 20, 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:
RCV000414568.4

Allele description [Variation Report for NM_000329.3(RPE65):c.893del (p.Lys298fs)]

NM_000329.3(RPE65):c.893del (p.Lys298fs)

Gene:
RPE65:retinoid isomerohydrolase RPE65 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p31.3
Genomic location:
Preferred name:
NM_000329.3(RPE65):c.893del (p.Lys298fs)
Other names:
NM_000329.3(RPE65):c.893del; p.Lys298fs
HGVS:
  • NC_000001.11:g.68439051del
  • NG_008472.2:g.15913del
  • NM_000329.3:c.893delMANE SELECT
  • NP_000320.1:p.Lys298fs
  • NC_000001.10:g.68904730del
  • NC_000001.10:g.68904734del
  • NG_008472.1:g.15913del
  • NM_000329.2:c.889delA
  • NM_000329.2:c.893del
  • NM_000329.2:c.893delA
  • NM_000329.3:c.893delAMANE SELECT
Protein change:
K298fs
Links:
dbSNP: rs61752902
NCBI 1000 Genomes Browser:
rs61752902
Molecular consequence:
  • NM_000329.3:c.893del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000117365Retina International
no classification provided
not providednot providednot provided

SCV000490776GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Apr 20, 2020) 		germlineclinical testing

Citation Link

Description

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Retina International, SCV000117365.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

From GeneDx, SCV000490776.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 11462243, 18055820, 10766140, 17964524, 16123401, 17848510, 24154662)

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

Last Updated: May 7, 2024