NM_000372.5(TYR):c.635G>A (p.Arg212Lys) AND Tyrosinase-negative oculocutaneous albinism

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 31, 2017
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:: RCV000501190.6

Allele description [Variation Report for NM_000372.5(TYR):c.635G>A (p.Arg212Lys)]

NM_000372.5(TYR):c.635G>A (p.Arg212Lys)

Gene:

TYR:tyrosinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q14.3

Genomic location:

Preferred name:

NM_000372.5(TYR):c.635G>A (p.Arg212Lys)

HGVS:

NC_000011.10:g.89178588G>A
NG_008748.1:g.5717G>A
NM_000372.5:c.635G>AMANE SELECT
NP_000363.1:p.Arg212Lys
NC_000011.9:g.88911756G>A
NM_000372.4:c.635G>A

Protein change:

R212K

Links:

dbSNP: rs377209424

NCBI 1000 Genomes Browser:

rs377209424

Molecular consequence:

NM_000372.5:c.635G>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
SCV000597802	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 31, 2017)	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

SCV000597802

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 31, 2017)

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

Citations

PubMed

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 Genetic Services Laboratory, University of Chicago, SCV000597802.1

#	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 13, 2024

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