NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Oct 3, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001068378.2

Allele description [Variation Report for NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter)]

NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter)

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.607C>T (p.Arg203Ter)
Other names:
CNGB3, 607C-T, ARG203TER
HGVS:
  • NC_000008.11:g.86668055G>A
  • NG_016980.1:g.80621C>T
  • NM_019098.5:c.607C>TMANE SELECT
  • NP_061971.3:p.Arg203Ter
  • NP_061971.3:p.Arg203Ter
  • NC_000008.10:g.87680283G>A
  • NM_019098.4:c.607C>T
Protein change:
R203*; ARG203TER
Links:
OMIM: 605080.0004; dbSNP: rs267606739
NCBI 1000 Genomes Browser:
rs267606739
Molecular consequence:
  • NM_019098.5:c.607C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001233487Invitaecriteria provided, single submitter
Pathogenic
(Oct 3, 2020)
germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.

Kohl S, Baumann B, Broghammer M, J├Ągle H, Sieving P, Kellner U, Spegal R, Anastasi M, Zrenner E, Sharpe LT, Wissinger B.

Hum Mol Genet. 2000 Sep 1;9(14):2107-16.

PubMed [citation]
PMID:
10958649

CNGB3-achromatopsia clinical trial with CNTF: diminished rod pathway responses with no evidence of improvement in cone function.

Zein WM, Jeffrey BG, Wiley HE, Turriff AE, Tumminia SJ, Tao W, Bush RA, Marangoni D, Wen R, Wei LL, Sieving PA.

Invest Ophthalmol Vis Sci. 2014 Sep 9;55(10):6301-8. doi: 10.1167/iovs.14-14860.

PubMed [citation]
PMID:
25205868
PMCID:
PMC4191169
See all PubMed Citations (6)

Details of each submission

From Invitae, SCV001233487.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

This sequence change creates a premature translational stop signal (p.Arg203*) in the CNGB3 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs267606739, ExAC 0.01%). This variant has been observed to segregate with achromatopsia in a family and in unrelated individuals affected with this condition, Leber congenital amaurosis or early-onset retinal dystrophy (PMID: 10958649, 25205868, 29186038, 27874104). ClinVar contains an entry for this variant (Variation ID: 5223). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in CNGB3 are known to be pathogenic (PMID: 15657609). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

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