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NM_000329.3(RPE65):c.1366del (p.Glu456fs) AND not provided

Germline classification:
Likely pathogenic (1 submission)
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:
RCV000171153.2

Allele description [Variation Report for NM_000329.3(RPE65):c.1366del (p.Glu456fs)]

NM_000329.3(RPE65):c.1366del (p.Glu456fs)

Gene:
RPE65:retinoid isomerohydrolase RPE65 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p31.3
Genomic location:
Preferred name:
NM_000329.3(RPE65):c.1366del (p.Glu456fs)
HGVS:
  • NC_000001.11:g.68431149del
  • NG_008472.2:g.23811del
  • NM_000329.3:c.1366delMANE SELECT
  • NP_000320.1:p.Glu456fs
  • NC_000001.10:g.68896832del
  • NG_008472.1:g.23811del
  • NM_000329.2:c.1366del
  • p.(Glu456Lysfs*30)
Protein change:
E456fs
Links:
dbSNP: rs786205444
NCBI 1000 Genomes Browser:
rs786205444
Molecular consequence:
  • NM_000329.3:c.1366del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000221349Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenicgermlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre, SCV000221349.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 17, 2023