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NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys) AND Albinism

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 6, 2016
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:
RCV000415383.2

Allele description [Variation Report for NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys)]

NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys)

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.1025A>G (p.Tyr342Cys)
HGVS:
  • NC_000015.10:g.28014795T>C
  • NG_009846.1:g.89518A>G
  • NM_000275.3:c.1025A>GMANE SELECT
  • NM_001300984.2:c.1025A>G
  • NP_000266.2:p.Tyr342Cys
  • NP_001287913.1:p.Tyr342Cys
  • NC_000015.9:g.28259941T>C
  • NM_000275.2:c.1025A>G
Protein change:
Y342C
Links:
dbSNP: rs142931246
NCBI 1000 Genomes Browser:
rs142931246
Molecular consequence:
  • NM_000275.3:c.1025A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001300984.2:c.1025A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Albinism
Identifiers:
MONDO: MONDO:0043209; MedGen: C0001916; Human Phenotype Ontology: HP:0001022

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000492537Centre for Mendelian Genomics, University Medical Centre Ljubljana
no assertion criteria provided
Likely pathogenic
(Apr 6, 2016) 		unknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000492537.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 19, 2024