NM_019098.5(CNGB3):c.1194T>G (p.Tyr398Ter) AND Achromatopsia 3

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 27, 2017
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:: RCV000498976.1

Allele description [Variation Report for NM_019098.5(CNGB3):c.1194T>G (p.Tyr398Ter)]

NM_019098.5(CNGB3):c.1194T>G (p.Tyr398Ter)

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.1194T>G (p.Tyr398Ter)

HGVS:

NC_000008.11:g.86632878A>C
NG_016980.1:g.115798T>G
NM_019098.5:c.1194T>GMANE SELECT
NP_061971.3:p.Tyr398Ter
NP_061971.3:p.Tyr398Ter
NC_000008.10:g.87645106A>C
NM_019098.4:c.1194T>G

Protein change:

Y398*

Links:

dbSNP: rs775038513

NCBI 1000 Genomes Browser:

rs775038513

Molecular consequence:

NM_019098.5:c.1194T>G - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000575832	Molecular Genetics Laboratory, Institute for Ophthalmic Research	no assertion criteria provided	Pathogenic (Mar 27, 2017)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000575832

Molecular Genetics Laboratory, Institute for Ophthalmic Research

no assertion criteria provided

Pathogenic
(Mar 27, 2017)

unknown

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

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

Details of each submission

From Molecular Genetics Laboratory, Institute for Ophthalmic Research, SCV000575832.1

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

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

Last Updated: Apr 23, 2022

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