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NM_000372.5(TYR):c.140G>A (p.Gly47Asp) 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:
RCV004532284.2

Allele description [Variation Report for NM_000372.5(TYR):c.140G>A (p.Gly47Asp)]

NM_000372.5(TYR):c.140G>A (p.Gly47Asp)

Gene:
TYR:tyrosinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q14.3
Genomic location:
Preferred name:
NM_000372.5(TYR):c.140G>A (p.Gly47Asp)
HGVS:
  • NC_000011.10:g.89178093G>A
  • NG_008748.1:g.5222G>A
  • NM_000372.5:c.140G>AMANE SELECT
  • NP_000363.1:p.Gly47Asp
  • NC_000011.9:g.88911261G>A
  • NM_000372.4:c.140G>A
  • P14679:p.Gly47Asp
Protein change:
G47D; GLY47ASP
Links:
UniProtKB: P14679#VAR_007652; OMIM: 606933.0024; dbSNP: rs61753180
NCBI 1000 Genomes Browser:
rs61753180
Molecular consequence:
  • NM_000372.5:c.140G>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
SCV004114982PreventionGenetics, 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, SCV004114982.3

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

Description

The TYR c.140G>A variant is predicted to result in the amino acid substitution p.Gly47Asp. This variant has been reported many times as causative for autosomal recessive oculocutaneous albinism (see for examples Oetting et al. 1993. PubMed ID: 8434585; Gershoni-Baruch et al. 1994. PubMed ID: 8128955; Camand et al. 2001. PubMed ID: 11295837; Marti et al. 2017. PubMed ID: 28976636). This variant is reported in 0.11% of alleles in individuals of Latino 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/3794). 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 13, 2024