NM_019098.5(CNGB3):c.445_446insT (p.Lys149fs) AND Achromatopsia 3

Germline classification:: Pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001270470.1

Allele description [Variation Report for NM_019098.5(CNGB3):c.445_446insT (p.Lys149fs)]

NM_019098.5(CNGB3):c.445_446insT (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.445_446insT (p.Lys149fs)

HGVS:

NC_000008.11:g.86670991_86670992insA
NG_016980.1:g.77684_77685insT
NM_019098.5:c.445_446insTMANE SELECT
NP_061971.3:p.Lys149fs
NC_000008.10:g.87683219_87683220insA
NM_019098.4:c.445_446insT

Protein change:

K149fs

Links:

dbSNP: rs1823849258

NCBI 1000 Genomes Browser:

rs1823849258

Molecular consequence:

NM_019098.5:c.445_446insT - frameshift variant - [Sequence Ontology: SO:0001589]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001450760	Laboratory of Genetics in Ophthalmology, Institut Imagine	no assertion criteria provided	Pathogenic	inherited	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001450760

Laboratory of Genetics in Ophthalmology, Institut Imagine

no assertion criteria provided

Pathogenic

inherited

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	inherited	yes	1	not provided	not provided	not provided	not provided	research

Details of each submission

From Laboratory of Genetics in Ophthalmology, Institut Imagine, SCV001450760.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	not provided

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

Last Updated: Apr 23, 2022

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