NM_019098.5(CNGB3):c.446_447insT (p.Lys149fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 3, 2023
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:: RCV001038514.6

Allele description [Variation Report for NM_019098.5(CNGB3):c.446_447insT (p.Lys149fs)]

NM_019098.5(CNGB3):c.446_447insT (p.Lys149fs)

Gene:

CNGB3:cyclic nucleotide gated channel subunit beta 3 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

8q21.3

Genomic location:

Preferred name:

NM_019098.5(CNGB3):c.446_447insT (p.Lys149fs)

HGVS:

NC_000008.11:g.86670990_86670991insA
NG_016980.1:g.77685_77686insT
NM_019098.5:c.446_447insTMANE SELECT
NP_061971.3:p.Lys149fs
NP_061971.3:p.Lys149fs
NC_000008.10:g.87683218_87683219insA
NM_019098.4:c.446_447insT

Protein change:

K149fs

Links:

OMIM: 605080.0005; dbSNP: rs748993388

NCBI 1000 Genomes Browser:

rs748993388

Molecular consequence:

NM_019098.5:c.446_447insT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001201984	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Sep 3, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 12357335, 28795510, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001201984

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Sep 3, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate.

Rojas CV, María LS, Santos JL, Cortés F, Alliende MA.

Eur J Hum Genet. 2002 Oct;10(10):638-42.

PubMed [citation]

PMID:: 12357335

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

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001201984.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This premature translational stop signal has been observed in individual(s) with achromatopsia (PMID: 12357335). This variant is also known as c.492_493insT. ClinVar contains an entry for this variant (Variation ID: 370100). For these reasons, this variant has been classified as Pathogenic. This variant is present in population databases (rs748993388, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Lys149Asnfs*30) in the CNGB3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CNGB3 are known to be pathogenic (PMID: 28795510).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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