NM_000372.5(TYR):c.1342G>A (p.Asp448Asn) AND Tyrosinase-negative oculocutaneous albinism

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jul 22, 2021
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:: RCV000004006.5

Allele description [Variation Report for NM_000372.5(TYR):c.1342G>A (p.Asp448Asn)]

NM_000372.5(TYR):c.1342G>A (p.Asp448Asn)

Gene:

TYR:tyrosinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q14.3

Genomic location:

Preferred name:

NM_000372.5(TYR):c.1342G>A (p.Asp448Asn)

HGVS:

NC_000011.10:g.89284930G>A
NG_008748.1:g.112059G>A
NM_000372.5:c.1342G>AMANE SELECT
NP_000363.1:p.Asp448Asn
NC_000011.9:g.89018098G>A
NM_000372.4:c.1342G>A
P14679:p.Asp448Asn

Protein change:

D448N; ASP448ASN

Links:

UniProtKB: P14679#VAR_007693; OMIM: 606933.0032; dbSNP: rs104894318

NCBI 1000 Genomes Browser:

rs104894318

Molecular consequence:

NM_000372.5:c.1342G>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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000024172	OMIM	no assertion criteria provided	Pathogenic (Jul 15, 1992)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV001810224	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]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000024172

OMIM

no assertion criteria provided

Pathogenic
(Jul 15, 1992)

germline

literature only

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

SCV001810224

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]

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.

Tripathi RK, Strunk KM, Giebel LB, Weleber RG, Spritz RA.

Am J Med Genet. 1992 Jul 15;43(5):865-71.

PubMed [citation]

PMID:: 1642278

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, SCV000024172.1

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

Description

See Tripathi et al. (1992) for the GAC(asp)-to-AAC(asn) mutation in codon 448.

#	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 Genome-Nilou Lab, SCV001810224.1

#	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

Last Updated: Oct 20, 2024

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