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NM_000372.5(TYR):c.230G>A (p.Arg77Gln) AND TYR-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 26, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004532282.2

Allele description [Variation Report for NM_000372.5(TYR):c.230G>A (p.Arg77Gln)]

NM_000372.5(TYR):c.230G>A (p.Arg77Gln)

Gene:
TYR:tyrosinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q14.3
Genomic location:
Preferred name:
NM_000372.5(TYR):c.230G>A (p.Arg77Gln)
Other names:
R59Q
HGVS:
  • NC_000011.10:g.89178183G>A
  • NG_008748.1:g.5312G>A
  • NM_000372.5:c.230G>AMANE SELECT
  • NP_000363.1:p.Arg77Gln
  • NC_000011.9:g.88911351G>A
  • NM_000372.4:c.230G>A
  • P14679:p.Arg77Gln
Protein change:
R77Q; ARG59GLN
Links:
UniProtKB: P14679#VAR_007655; OMIM: 606933.0005; OMIM: 606933.0010; dbSNP: rs61753185
NCBI 1000 Genomes Browser:
rs61753185
Molecular consequence:
  • NM_000372.5:c.230G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
TYR-related disorder
Synonyms:
TYR-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004114465PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Jul 26, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004114465.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The TYR c.230G>A variant is predicted to result in the amino acid substitution p.Arg77Gln. This variant has been reported in the homozygous and compound heterozygous states in individuals with oculocutaneous albinism (see for examples Kikuchi et al. 1990. PubMed ID: 2113511; Kono et al. 2012. PubMed ID: 21985232; Marti et al. 2018. PubMed ID: 28976636). Functional studies support the pathogenicity of this variant (Dolinska et al. 2017. PubMed ID: 27775880; Kono et al. 2012. PubMed ID: 219852320). This variant is reported in 0.012% of alleles in individuals of European (Non-Finnish) descent in gnomAD. This variant has been classified as pathogenic by multiple independent submitters to the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar/variation/3776/). Given all the evidence, we interpret this variant as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024