NM_019098.5(CNGB3):c.2313_2315del (p.Arg772del) AND Achromatopsia

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 28, 2019
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:: RCV001825510.2

Allele description [Variation Report for NM_019098.5(CNGB3):c.2313_2315del (p.Arg772del)]

NM_019098.5(CNGB3):c.2313_2315del (p.Arg772del)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

8q21.3

Genomic location:

Preferred name:

NM_019098.5(CNGB3):c.2313_2315del (p.Arg772del)

HGVS:

NC_000008.11:g.86575921_86575923del
NG_016980.1:g.172755_172757del
NM_019098.5:c.2313_2315delMANE SELECT
NP_061971.3:p.Arg772del
NP_061971.3:p.Arg772del
NC_000008.10:g.87588147_87588149del
NC_000008.10:g.87588149_87588151del
NM_019098.4:c.2313_2315del

Protein change:

R772del

Links:

dbSNP: rs758914061

NCBI 1000 Genomes Browser:

rs758914061

Molecular consequence:

NM_019098.5:c.2313_2315del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Achromatopsia
Synonyms:: Rod monochromatism
Identifiers:: MONDO: MONDO:0018852; MedGen: C0152200; Human Phenotype Ontology: HP:0011516

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002075548	Natera, Inc.	no assertion criteria provided	Uncertain significance (Oct 28, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002075548

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Oct 28, 2019)

germline

clinical testing

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

Details of each submission

From Natera, Inc., SCV002075548.1

#	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	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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