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NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter) AND Achromatopsia 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000988076.1

Allele description [Variation Report for NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter)]

NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter)

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.1810C>T (p.Arg604Ter)
HGVS:
  • NC_000008.11:g.86579224G>A
  • NG_016980.1:g.169452C>T
  • NM_019098.5:c.1810C>TMANE SELECT
  • NP_061971.3:p.Arg604Ter
  • NP_061971.3:p.Arg604Ter
  • NC_000008.10:g.87591452G>A
  • NM_019098.4:c.1810C>T
Protein change:
R604*
Links:
dbSNP: rs200805087
NCBI 1000 Genomes Browser:
rs200805087
Molecular consequence:
  • NM_019098.5:c.1810C>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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001137650Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Pathogenic
(May 28, 2019) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Mendelics, SCV001137650.1

#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 13, 2024