NM_019098.5(CNGB3):c.1781+1del AND Achromatopsia 3

Clinical significance:Likely pathogenic (Last evaluated: Mar 24, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000497830.1

Allele description [Variation Report for NM_019098.5(CNGB3):c.1781+1del]

NM_019098.5(CNGB3):c.1781+1del

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.1781+1del
HGVS:
  • NC_000008.11:g.86604093del
  • NG_016980.1:g.144584del
  • NM_019098.4:c.1781+1del
  • NM_019098.5:c.1781+1delMANE SELECT
  • NC_000008.10:g.87616320del
  • NC_000008.10:g.87616321del
  • NM_019098.4:c.1781+1delG
Links:
dbSNP: rs1554607546
NCBI 1000 Genomes Browser:
rs1554607546
Molecular consequence:
  • NM_019098.4:c.1781+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_019098.5:c.1781+1del - splice donor variant - [Sequence Ontology: SO:0001575]

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000575856Molecular Genetics Laboratory,Institute for Ophthalmic Researchno assertion criteria providedPathogenic
(Mar 27, 2017)
germlineresearch

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

SCV000789904Counsylcriteria provided, single submitter
Likely pathogenic
(Mar 24, 2017)
unknownclinical testing

Citation Link

Summary from all submissions

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

Citations

PubMed

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 Molecular Genetics Laboratory,Institute for Ophthalmic Research, SCV000575856.1

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

From Counsyl, SCV000789904.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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