NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) AND OCA2-related disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 20, 2024
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:: RCV003421891.6

Allele description [Variation Report for NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)]

NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)

Gene:

OCA2:OCA2 melanosomal transmembrane protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q13.1

Genomic location:

Preferred name:

NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)

HGVS:

NC_000015.10:g.27983383T>C
NG_009846.1:g.120930A>G
NM_000275.3:c.1465A>GMANE SELECT
NM_001300984.2:c.1393A>G
NP_000266.2:p.Asn489Asp
NP_001287913.1:p.Asn465Asp
NC_000015.9:g.28228529T>C
NM_000275.2:c.1465A>G
Q04671:p.Asn489Asp

Protein change:

N465D; ASN489ASP

Links:

UniProtKB: Q04671#VAR_006135; OMIM: 611409.0010; dbSNP: rs121918170

NCBI 1000 Genomes Browser:

rs121918170

Molecular consequence:

NM_000275.3:c.1465A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001300984.2:c.1393A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: OCA2-related disorder
Synonyms:: OCA2-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004118645	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Pathogenic (Aug 20, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004118645

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Pathogenic
(Aug 20, 2024)

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 PreventionGenetics, part of Exact Sciences, SCV004118645.3

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

Description

The OCA2 c.1465A>G variant is predicted to result in the amino acid substitution p.Asn489Asp. This variant has been reported to be causative for autosomal recessive oculocutaneous albinism (Spritz et al. 1997. PubMed ID: 9259203; King et al. 2003. PubMed ID: 13680365; King et al. 2003. PubMed ID: 12876664; Hutton and Spritz. 2008. PubMed ID: 18326704). This variant is reported in 0.067% of alleles in individuals of European (Non-Finnish) descent in gnomAD. This variant has been reported to be one of three recurrent pathogenic variants in the OCA2 gene and accounts for one of the alleles in ~7% of OCAII cases (Hutton and Spritz. 2008. PubMed ID: 18463683). Given the evidence, we interpret this variant as pathogenic.

#	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 20, 2024

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