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NM_000275.3(OCA2):c.1178G>T (p.Gly393Val) AND Tyrosinase-positive oculocutaneous albinism

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 16, 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:
RCV004017879.1

Allele description [Variation Report for NM_000275.3(OCA2):c.1178G>T (p.Gly393Val)]

NM_000275.3(OCA2):c.1178G>T (p.Gly393Val)

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.1178G>T (p.Gly393Val)
HGVS:
  • NC_000015.10:g.27989605C>A
  • NG_009846.1:g.114708G>T
  • NM_000275.2:c.1178G>T
  • NM_000275.3:c.1178G>TMANE SELECT
  • NM_001300984.2:c.1106G>T
  • NP_000266.2:p.Gly393Val
  • NP_001287913.1:p.Gly369Val
  • NC_000015.9:g.28234751C>A
  • NM_000275.3:c.1178G>T
Protein change:
G369V
Links:
dbSNP: rs749661379
NCBI 1000 Genomes Browser:
rs749661379
Molecular consequence:
  • NM_000275.3:c.1178G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001300984.2:c.1106G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Tyrosinase-positive oculocutaneous albinism (OCA2)
Synonyms:
ALBINISM II; Albinism 2; Albinoidism; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008746; MedGen: C0268495; Orphanet: 79432; OMIM: 203200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004847491Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely Pathogenic
(Apr 16, 2024) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism.

Ma L, Zhu J, Wang J, Huang Y, Zhang J, Wang C, Zhou Y, Peng D.

Front Genet. 2021;12:715437. doi: 10.3389/fgene.2021.715437.

PubMed [citation]
PMID:
34707637
PMCID:
PMC8544823

Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients.

Wei A, Zhang T, Yuan Y, Qi Z, Bai D, Zhang Y, Zhang Y, Liu T, Huang Q, Yang X, Li W.

J Invest Dermatol. 2022 Jun;142(6):1752-1755.e3. doi: 10.1016/j.jid.2021.11.014. Epub 2021 Nov 24. No abstract available.

PubMed [citation]
PMID:
34838614
See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV004847491.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The p.Gly393Val variant in OCA2 has been reported in the homozygous state in 1 individual and in the compound heterozygous state with another potentially disease-causing variant in 3 individuals with oculocutaneous albinism, and the variants were confirmed in trans in at least 1 individual (Ma 2021 PMID: 34707637, Wei 2022 PMID: 34838614, Invitae pers. comm.). This variant has also been reported by other clinical laboratories in ClinVar (Variation ID: 1388008) and has been identified in 0.009% (7/74926) of African/African American chromosomes by gnomAD (http://gnomad.broadinstitute.org, v4.0.0), consistent with a recessive carrier frequency. Computational prediction tools and conservation analyses suggest that this variant may impact the protein. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal recessive oculocutaneous albinism. ACMG/AMP Criteria applied: PM3_Strong, PM2_Supporting, PP3.

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

Last Updated: Sep 29, 2024