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NM_000329.3(RPE65):c.1155G>A (p.Thr385=) AND Retinitis pigmentosa

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 15, 2017
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:
RCV001098672.4

Allele description [Variation Report for NM_000329.3(RPE65):c.1155G>A (p.Thr385=)]

NM_000329.3(RPE65):c.1155G>A (p.Thr385=)

Gene:
RPE65:retinoid isomerohydrolase RPE65 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p31.3
Genomic location:
Preferred name:
NM_000329.3(RPE65):c.1155G>A (p.Thr385=)
Other names:
NM_000329.3(RPE65):c.1155G>A; p.Thr385=
HGVS:
  • NC_000001.11:g.68431559C>T
  • NG_008472.2:g.23401G>A
  • NM_000329.3:c.1155G>AMANE SELECT
  • NP_000320.1:p.Thr385=
  • NC_000001.10:g.68897242C>T
  • NG_008472.1:g.23401G>A
  • NM_000329.2:c.1155G>A
Links:
dbSNP: rs62653014
NCBI 1000 Genomes Browser:
rs62653014
Molecular consequence:
  • NM_000329.3:c.1155G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Retinitis pigmentosa (RP)
Synonyms:
Tapetoretinal degeneration
Identifiers:
MONDO: MONDO:0019200; MeSH: D012174; MedGen: C0035334; Orphanet: 791; OMIM: 268000; OMIM: PS268000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001255055Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Benign
(Sep 15, 2017) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis.

Simovich MJ, Miller B, Ezzeldin H, Kirkland BT, McLeod G, Fulmer C, Nathans J, Jacobson SG, Pittler SJ.

Hum Mutat. 2001 Aug;18(2):164.

PubMed [citation]
PMID:
11462243

Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis.

Morimura H, Fishman GA, Grover SA, Fulton AB, Berson EL, Dryja TP.

Proc Natl Acad Sci U S A. 1998 Mar 17;95(6):3088-93.

PubMed [citation]
PMID:
9501220
PMCID:
PMC19699
See all PubMed Citations (3)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001255055.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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

Last Updated: Mar 5, 2024