NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter) AND Achromatopsia 3

Clinical significance:Likely pathogenic (Last evaluated: Jun 8, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000169161.4

Allele description [Variation Report for NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter)]

NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter)

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.391C>T (p.Gln131Ter)
HGVS:
  • NC_000008.11:g.86671046G>A
  • NG_016980.1:g.77630C>T
  • NM_019098.4:c.391C>T
  • NM_019098.5:c.391C>TMANE SELECT
  • NP_061971.3:p.Gln131Ter
  • NP_061971.3:p.Gln131Ter
  • NC_000008.10:g.87683274G>A
Protein change:
Q131*
Links:
dbSNP: rs786204492
NCBI 1000 Genomes Browser:
rs786204492
Molecular consequence:
  • NM_019098.4:c.391C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_019098.5:c.391C>T - 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
SCV000220388Counsylcriteria provided, single submitter
Likely pathogenic
(Jun 8, 2014)
unknownliterature only

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

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

Citation Link,

SCV000575823Molecular 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 providedliterature only

Citations

PubMed

Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.

Nishiguchi KM, Sandberg MA, Gorji N, Berson EL, Dryja TP.

Hum Mutat. 2005 Mar;25(3):248-58.

PubMed [citation]
PMID:
15712225

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
See all PubMed Citations (4)

Details of each submission

From Counsyl, SCV000220388.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Molecular Genetics Laboratory,Institute for Ophthalmic Research, SCV000575823.1

#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: Oct 30, 2021

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