NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) AND Albinism or congenital nystagmus

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 1, 2024
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:: RCV004584136.1

Allele description [Variation Report for NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)]

NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)

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.1327G>A (p.Val443Ile)

HGVS:

NC_000015.10:g.27985101C>T
NG_009846.1:g.119212G>A
NM_000275.3:c.1327G>AMANE SELECT
NM_001300984.2:c.1255G>A
NP_000266.2:p.Val443Ile
NP_001287913.1:p.Val419Ile
NC_000015.9:g.28230247C>T
NM_000275.2:c.1327G>A
Q04671:p.Val443Ile

Protein change:

V419I; VAL443ILE

Links:

UniProtKB: Q04671#VAR_006132; OMIM: 611409.0004; dbSNP: rs121918166

NCBI 1000 Genomes Browser:

rs121918166

Molecular consequence:

NM_000275.3:c.1327G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001300984.2:c.1255G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Albinism or congenital nystagmus
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005068211	NHS Central & South Genomic Laboratory Hub	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 1, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005068211

NHS Central & South Genomic Laboratory Hub

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 1, 2024)

germline

clinical testing

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	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From NHS Central & South Genomic Laboratory Hub, SCV005068211.1

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

Last Updated: Nov 10, 2024

ClinVar

Relating variation to medicine