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NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr) AND OCA2-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 10, 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:
RCV004742450.1

Allele description [Variation Report for NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr)]

NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr)

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.2330G>A (p.Cys777Tyr)
HGVS:
  • NC_000015.10:g.27851390C>T
  • NG_009846.1:g.252923G>A
  • NM_000275.3:c.2330G>AMANE SELECT
  • NM_001300984.2:c.2258G>A
  • NP_000266.2:p.Cys777Tyr
  • NP_001287913.1:p.Cys753Tyr
  • NC_000015.9:g.28096536C>T
  • NM_000275.2:c.2330G>A
Protein change:
C753Y
Links:
dbSNP: rs776814755
NCBI 1000 Genomes Browser:
rs776814755
Molecular consequence:
  • NM_000275.3:c.2330G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001300984.2:c.2258G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005360256PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(May 10, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005360256.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The OCA2 c.2330G>A variant is predicted to result in the amino acid substitution p.Cys777Tyr. This variant has been reported in an individual with oculocutaneous albinism, but a second variant in the OCA2 gene was not detected (Marti et al. 2017. PubMed ID: 28976636). This variant has also been reported along with a variant of uncertain significance in OCA2 in an individual with oculocutaneous albinism (Ma et al. 2021. PubMed ID: 34707637). Additionally this variant has been reported in the heterozygous state in individuals who developed cutaneous malignant melanoma (Goldstein et al. 2017. PubMed ID: 29036293). This variant is documented in 0.011% of alleles in individuals of East Asian descent in gnomAD. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024