NM_019098.5(CNGB3):c.1119G>A (p.Trp373Ter) AND Achromatopsia 3

Clinical significance:Likely pathogenic (Last evaluated: Feb 23, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000169624.2

Allele description [Variation Report for NM_019098.5(CNGB3):c.1119G>A (p.Trp373Ter)]

NM_019098.5(CNGB3):c.1119G>A (p.Trp373Ter)

Gene:
CNGB3:cyclic nucleotide gated channel subunit beta 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q21.3
Genomic location:
Preferred name:
NM_019098.5(CNGB3):c.1119G>A (p.Trp373Ter)
HGVS:
  • NC_000008.11:g.86643810C>T
  • NG_016980.1:g.104866G>A
  • NM_019098.5:c.1119G>AMANE SELECT
  • NP_061971.3:p.Trp373Ter
  • NP_061971.3:p.Trp373Ter
  • NC_000008.10:g.87656038C>T
  • NM_019098.4:c.1119G>A
Protein change:
W373*
Links:
dbSNP: rs786204762
NCBI 1000 Genomes Browser:
rs786204762
Molecular consequence:
  • NM_019098.5:c.1119G>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000221152Counsylcriteria provided, single submitter
Likely pathogenic
(Feb 23, 2015)
unknownliterature only

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

Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015),

Citation Link,

SCV000575831Molecular Genetics Laboratory,Institute for Ophthalmic Researchno assertion criteria providedPathogenic
(Mar 27, 2017)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch
not providedunknownunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.

Kohl S, Varsanyi B, Antunes GA, Baumann B, Hoyng CB, J├Ągle H, Rosenberg T, Kellner U, Lorenz B, Salati R, Jurklies B, Farkas A, Andreasson S, Weleber RG, Jacobson SG, Rudolph G, Castellan C, Dollfus H, Legius E, Anastasi M, Bitoun P, Lev D, et al.

Eur J Hum Genet. 2005 Mar;13(3):302-8.

PubMed [citation]
PMID:
15657609

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, SCV000221152.1

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

From Molecular Genetics Laboratory,Institute for Ophthalmic Research, SCV000575831.1

#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 4, 2021

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