NM_000275.3(OCA2):c.1091del (p.Leu364fs) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 9, 2023
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:: RCV003873440.1

Allele description

NM_000275.3(OCA2):c.1091del (p.Leu364fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

15q13.1

Genomic location:

Preferred name:

NM_000275.3(OCA2):c.1091del (p.Leu364fs)

HGVS:

NC_000015.10:g.27990601del
NG_009846.1:g.113712del
NG_009846.2:g.113714del
NM_000275.3:c.1091delMANE SELECT
NM_001300984.2:c.1045-935del
NP_000266.2:p.Leu364fs
NC_000015.9:g.28235747del

Protein change:

L364fs

Molecular consequence:

NM_000275.3:c.1091del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001300984.2:c.1045-935del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Neglect – failure of provision and failure of supervision - When To Suspect Chil...
Neglect – failure of provision and failure of supervision - When To Suspect Child Maltreatment
endo-1,3-beta glucanase [Sporothrix epigloea]
endo-1,3-beta glucanase [Sporothrix epigloea]
gi|2806968756|emb|CAK7264863.1||gnl CAWU|CAK7264863

Protein
Pourouma tomentosa voucher NL110530 maturase K (matK) gene, partial cds; chlorop...
Pourouma tomentosa voucher NL110530 maturase K (matK) gene, partial cds; chloroplast
gi|224495564|gb|FJ514760.1|

Nucleotide
RecName: Full=Osmotin-like protein TPM-1; AltName: Full=Pathogenesis-related pro...
RecName: Full=Osmotin-like protein TPM-1; AltName: Full=Pathogenesis-related protein PR P23; Short=23 kDa pathogenesis-related protein; AltName: Full=Probable endo-beta-1,3-D-glucanase TPM-1; AltName: Full=Thaumatin-like protein 5; Flags: Precursor
gi|2664702623|sp|Q01591.2|TPM1_SOLL

Protein
eIF3e [Cydia amplana]
eIF3e [Cydia amplana]
Gene ID:134663223

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004677729	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Mar 9, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 19865097, 21541274, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004677729

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Mar 9, 2023)

germline

clinical testing

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

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

Citations

PubMed

A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.

Wei A, Wang Y, Long Y, Wang Y, Guo X, Zhou Z, Zhu W, Liu J, Bian X, Lian S, Li W.

J Invest Dermatol. 2010 Mar;130(3):716-24. doi: 10.1038/jid.2009.339. Epub 2009 Oct 29.

PubMed [citation]

PMID:: 19865097

Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism.

Preising MN, Forster H, Gonser M, Lorenz B.

Mol Vis. 2011 Apr 15;17:939-48.

PubMed [citation]

PMID:: 21541274
PMCID:: PMC3084229

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV004677729.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with OCA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu364Argfs*6) in the OCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in OCA2 are known to be pathogenic (PMID: 19865097, 21541274).

#	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: Mar 5, 2024

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