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NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter) AND Stargardt disease

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jan 7, 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:
RCV001250276.2

Allele description [Variation Report for NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)]

NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)

Gene:
PRPH2:peripherin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)
HGVS:
  • NC_000006.12:g.42722199G>A
  • NG_009176.2:g.5422C>T
  • NM_000322.5:c.136C>TMANE SELECT
  • NP_000313.2:p.Arg46Ter
  • NC_000006.11:g.42689937G>A
  • NG_009176.1:g.5422C>T
  • NM_000322.4:c.136C>T
Protein change:
R46*; ARG46TER
Links:
OMIM: 179605.0018; dbSNP: rs61755771
NCBI 1000 Genomes Browser:
rs61755771
Molecular consequence:
  • NM_000322.5:c.136C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Stargardt disease (FFM)
Synonyms:
Stargardt's disease; Fundus flavimaculatus
Identifiers:
MONDO: MONDO:0019353; MedGen: C0271093; Orphanet: 827

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001424588NEI Ophthalmic Genomics Laboratory, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Jan 7, 2020)
germlineclinical testing

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

SCV002761252Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana
no assertion criteria provided
Pathogenic
(Dec 13, 2022)
de novoresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedresearch
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

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

Analysis of ELOVL4 and PRPH2 genes in Turkish Stargardt disease patients.

Bardak H, Gunay M, Erçalık Y, Bardak Y, Ozbas H, Bagci O, Ayata A, Sönmez M, Alagöz C.

Genet Mol Res. 2016 Oct 24;15(4). doi: 10.4238/gmr15048774.

PubMed [citation]
PMID:
27813578

Details of each submission

From NEI Ophthalmic Genomics Laboratory, National Institutes of Health, SCV001424588.1

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

Description

The variant NM_000322.4:c.136C>T in the PRPH2 gene has been previously studied (PMIDs 8111389, 20213611, 23105016, 25412400, 25412400, 28559085, 29555955, 29343940). We found this variant in 2 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is listed in dbSNP and/or HGMD (rs61755771,CM930635). It is present in gnomAD browser (AF 0.0000163). It is enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PVS1, PS4, PM2, PP1-M, PP5] and classified NM_000322.4:c.136C>T in the PRPH2 gene as a Pathogenic mutation.

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

From Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana, SCV002761252.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024