NM_000372.5(TYR):c.265T>C (p.Cys89Arg) AND Tyrosinase-negative oculocutaneous albinism

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: May 16, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000003984.11

Allele description [Variation Report for NM_000372.5(TYR):c.265T>C (p.Cys89Arg)]

NM_000372.5(TYR):c.265T>C (p.Cys89Arg)

Gene:

TYR:tyrosinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q14.3

Genomic location:

Preferred name:

NM_000372.5(TYR):c.265T>C (p.Cys89Arg)

HGVS:

NC_000011.10:g.89178218T>C
NG_008748.1:g.5347T>C
NM_000372.5:c.265T>CMANE SELECT
NP_000363.1:p.Cys89Arg
NC_000011.9:g.88911386T>C
NM_000372.4:c.265T>C
P14679:p.Cys89Arg

Protein change:

C89R; CYS89ARG

Links:

UniProtKB: P14679#VAR_007659; OMIM: 606933.0011; dbSNP: rs28940877

NCBI 1000 Genomes Browser:

rs28940877

Molecular consequence:

NM_000372.5:c.265T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Tyrosinase-negative oculocutaneous albinism (OCA1A)
Synonyms:: Oculocutaneous albinism type 1A; Albinism, oculocutaneous, type IA
Identifiers:: MONDO: MONDO:0008745; MedGen: C4551504; Orphanet: 352731; Orphanet: 79431; OMIM: 203100

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000024150	OMIM	no assertion criteria provided	Pathogenic (Feb 3, 2020)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV001368679	Centre for Mendelian Genomics, University Medical Centre Ljubljana	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 7, 2019)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001821925	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 22, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002579976	MGZ Medical Genetics Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 16, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

RFLP for TaqI at the human tyrosinase locus.

Spritz R, Strunk K, Oetting W, King R.

Nucleic Acids Res. 1988 Oct 25;16(20):9890. No abstract available.

PubMed [citation]

PMID:: 2903492
PMCID:: PMC338818

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 OMIM, SCV000024150.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In an American black with classic, tyrosinase-negative oculocutaneous albinism (OCA1A; 203100), Spritz et al. (1991) identified substitution of arginine for cysteine at codon 89. The subject was homozygous for a TGC-to-CGC transition.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV001368679.2

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

Description

This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PS3,PM2,PP3.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Genome-Nilou Lab, SCV001821925.1

#	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	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From MGZ Medical Genetics Center, SCV002579976.1

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

Last Updated: Sep 29, 2024

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