NM_019098.5(CNGB3):c.2301_2304dup (p.Ser769fs) AND Achromatopsia 3

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 14, 2017
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:: RCV000671490.1

Allele description [Variation Report for NM_019098.5(CNGB3):c.2301_2304dup (p.Ser769fs)]

NM_019098.5(CNGB3):c.2301_2304dup (p.Ser769fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

8q21.3

Genomic location:

Preferred name:

NM_019098.5(CNGB3):c.2301_2304dup (p.Ser769fs)

HGVS:

NC_000008.11:g.86575931_86575934dup
NG_016980.1:g.172743_172746dup
NM_019098.5:c.2301_2304dupMANE SELECT
NP_061971.3:p.Ser769fs
NC_000008.10:g.87588157_87588158insGTGG
NC_000008.10:g.87588159_87588162dup
NM_019098.4:c.2301_2304dupCCAC

Protein change:

S769fs

Links:

dbSNP: rs199570140

NCBI 1000 Genomes Browser:

rs199570140

Molecular consequence:

NM_019098.5:c.2301_2304dup - 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
SCV000796467	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Dec 14, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000796467

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Dec 14, 2017)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000796467.1

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

#	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

Last Updated: Sep 29, 2024

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