NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) AND Tyrosinase-negative oculocutaneous albinism

Germline classification:: Benign (5 submissions)
Last evaluated:: Jul 22, 2021
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:: RCV000055807.13

Allele description [Variation Report for NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)]

NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)

Gene:

TYR:tyrosinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q14.3

Genomic location:

Preferred name:

NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)

Other names:

TYR, SER192TYR (rs1042602)

HGVS:

NC_000011.10:g.89178528C>A
NG_008748.1:g.5657C>A
NM_000372.5:c.575C>AMANE SELECT
NP_000363.1:p.Ser192Tyr
NC_000011.9:g.88911696C>A
NM_000372.4:c.575C>A
P14679:p.Ser192Tyr

Protein change:

S192Y; SER192TYR

Links:

UniProtKB: P14679#VAR_007662; OMIM: 606933.0008; dbSNP: rs1042602

NCBI 1000 Genomes Browser:

rs1042602

Molecular consequence:

NM_000372.5:c.575C>A - missense variant - [Sequence Ontology: SO:0001583]

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

Recent activity

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BB546619 RIKEN full-length enriched, 0 day neonate eyeball Mus musculus cDNA clo...
BB546619 RIKEN full-length enriched, 0 day neonate eyeball Mus musculus cDNA clone E130311C23 3', mRNA sequence
gi|16447473|gnl|dbEST|10029009|dbj| 619.2|

Nucleotide
Zc2hc1a zinc finger, C2HC-type containing 1A [Mus musculus]
Zc2hc1a zinc finger, C2HC-type containing 1A [Mus musculus]
Gene ID:67306

Gene
67306[uid] AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000086777	GeneReviews	no classification provided	not provided	unknown	literature only	PubMed (1) [See all records that cite this PMID]
SCV001138402	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Benign (May 28, 2019)	unknown	clinical testing	Citation Link,
SCV001821902	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Jul 22, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005091108	Medical Molecular Genetics Department, National Research Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	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
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Oculocutaneous Albinism Type 1 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.

Lewis RA.

2000 Jan 19 [updated 2013 May 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 20301345

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 GeneReviews, SCV000086777.2

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

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

From Mendelics, SCV001138402.1

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

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

From Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV001369187.2

#	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: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PS3,PP3,PP4,BP6,BS1,BA1.

#	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, SCV001821902.1

#	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 Medical Molecular Genetics Department, National Research Center, SCV005091108.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Flagged submissions

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001369187	Centre for Mendelian Genomics, University Medical Centre Ljubljana	flagged submission Reason: Outlier claim with insufficient supporting evidence Notes: Variant is part of disease-associated haplotype, but is benign on its own. (ACMG Guidelines, 2015)	Uncertain significance (Nov 7, 2019)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001369187

Centre for Mendelian Genomics, University Medical Centre Ljubljana

flagged submission

Reason: Outlier claim with insufficient supporting evidence

Notes: Variant is part of disease-associated haplotype, but is benign on its own.

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 7, 2019)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Last Updated: Nov 10, 2024

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