NM_019098.5(CNGB3):c.1366del (p.Arg456fs) AND Achromatopsia 3

Clinical significance:Likely pathogenic (Last evaluated: May 18, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000410652.2

Allele description [Variation Report for NM_019098.5(CNGB3):c.1366del (p.Arg456fs)]

NM_019098.5(CNGB3):c.1366del (p.Arg456fs)

Gene:
CNGB3:cyclic nucleotide gated channel subunit beta 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
8q21.3
Genomic location:
Preferred name:
NM_019098.5(CNGB3):c.1366del (p.Arg456fs)
HGVS:
  • NC_000008.11:g.86629034del
  • NG_016980.1:g.119643del
  • NM_019098.5:c.1366delMANE SELECT
  • NP_061971.3:p.Arg456fs
  • NC_000008.10:g.87641262del
  • NM_019098.4:c.1366delC
Protein change:
R456fs
Links:
dbSNP: rs1057516878
NCBI 1000 Genomes Browser:
rs1057516878
Molecular consequence:
  • NM_019098.5:c.1366del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Achromatopsia 3 (ACHM3)
Synonyms:
ROD MONOCHROMACY 1; ROD MONOCHROMATISM 1; Pingelapese blindness; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009875; MedGen: C1849792; Orphanet: 49382; OMIM: 262300

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000486368Counsylcriteria provided, single submitter
Likely pathogenic
(May 18, 2016)
unknownclinical testing

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

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf,

Citation Link,

SCV000575794Molecular Genetics Laboratory,Institute for Ophthalmic Researchno assertion criteria providedPathogenic
(Mar 27, 2017)
unknownresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Antifungal activity of compounds targeting the Hsp90-calcineurin pathway against various mould species.

Lamoth F, Alexander BD, Juvvadi PR, Steinbach WJ.

J Antimicrob Chemother. 2015 May;70(5):1408-11. doi: 10.1093/jac/dku549. Epub 2015 Jan 3.

PubMed [citation]
PMID:
25558076

CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.

Mayer AK, Van Cauwenbergh C, Rother C, Baumann B, Reuter P, De Baere E, Wissinger B, Kohl S; ACHM Study Group..

Hum Mutat. 2017 Nov;38(11):1579-1591. doi: 10.1002/humu.23311. Epub 2017 Aug 28.

PubMed [citation]
PMID:
28795510

Details of each submission

From Counsyl, SCV000486368.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Molecular Genetics Laboratory,Institute for Ophthalmic Research, SCV000575794.1

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

Last Updated: Nov 27, 2021

Support Center