NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter) AND Achromatopsia 3

Germline classification:: Pathogenic/Likely pathogenic (4 submissions)
Last evaluated:: Oct 11, 2019
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000005533.9

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)

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
SCV000025715	OMIM	no assertion criteria provided	Pathogenic (Sep 1, 2000)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000220887	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Nov 14, 2014)	unknown	literature only	PubMed (3) [See all records that cite these PMIDs] 10958649, 15657609, 25205868 Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015), Citation Link,
SCV000575824	Molecular Genetics Laboratory, Institute for Ophthalmic Research	no assertion criteria provided	Pathogenic (Mar 27, 2017)	germline	research	PubMed (1) [See all records that cite this PMID]
SCV001482634	Baylor Genetics - CSER-TexasKidsCanSeq	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 11, 2019)	maternal	clinical testing	PubMed (5) [See all records that cite these PMIDs] 10958649, 27874104, 29186038, 25525159, 25741868

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	literature only
not provided	maternal	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.

Kohl S, Varsanyi B, Antunes GA, Baumann B, Hoyng CB, Jägle H, Rosenberg T, Kellner U, Lorenz B, Salati R, Jurklies B, Farkas A, Andreasson S, Weleber RG, Jacobson SG, Rudolph G, Castellan C, Dollfus H, Legius E, Anastasi M, Bitoun P, Lev D, et al.

Eur J Hum Genet. 2005 Mar;13(3):302-8.

PubMed [citation]

PMID:: 15657609

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 (8)

Details of each submission

From OMIM, SCV000025715.3

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

Description

Kohl et al. (2000) reported 2 male sibs with achromatopsia (ACHM3; 262300) who were compound heterozygous for mutation in the CNGB3 gene: a 1-bp deletion (605080.0002) and a C-to-T transition at position 607, resulting in a premature stop codon (R203X).

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

From Counsyl, SCV000220887.2

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

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

From Molecular Genetics Laboratory, Institute for Ophthalmic Research, SCV000575824.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Baylor Genetics - CSER-TexasKidsCanSeq, SCV001482634.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. The c.607C>T (p.R203*) variant has been previously reported as pathogenic [PMID 10958649, 27874104, 29186038, 25525159]

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

Last Updated: Nov 24, 2024

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