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NM_019098.5(CNGB3):c.1245_1246del (p.Gln415fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 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:
RCV001008573.1

Allele description [Variation Report for NM_019098.5(CNGB3):c.1245_1246del (p.Gln415fs)]

NM_019098.5(CNGB3):c.1245_1246del (p.Gln415fs)

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.1245_1246del (p.Gln415fs)
HGVS:
  • NC_000008.11:g.86632827_86632828del
  • NG_016980.1:g.115849_115850del
  • NM_019098.5:c.1245_1246delMANE SELECT
  • NP_061971.3:p.Gln415fs
  • NC_000008.10:g.87645055_87645056del
  • NM_019098.4:c.1245_1246delAA
Protein change:
Q415fs
Links:
dbSNP: rs1585981462
NCBI 1000 Genomes Browser:
rs1585981462
Molecular consequence:
  • NM_019098.5:c.1245_1246del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001168346GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Mar 1, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV001168346.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1245_1246delAA pathogenic variant in the CNGB3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Glutamine 415, changes this amino acid to a Histidine residue, and creates a premature Stop codon at position 4 of the new reading frame, denoted p.Gln415HisfsX4. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1245_1246delAA variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1245_1246delAA as a pathogenic variant.

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

Last Updated: Apr 23, 2022