NM_000372.5(TYR):c.272G>A (p.Cys91Tyr) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 27, 2023
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:: RCV002513316.2

Allele description [Variation Report for NM_000372.5(TYR):c.272G>A (p.Cys91Tyr)]

NM_000372.5(TYR):c.272G>A (p.Cys91Tyr)

Gene:

TYR:tyrosinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q14.3

Genomic location:

Preferred name:

NM_000372.5(TYR):c.272G>A (p.Cys91Tyr)

Other names:

TYR, CYS91TYR (rs137854890)

HGVS:

NC_000011.10:g.89178225G>A
NG_008748.1:g.5354G>A
NM_000372.5:c.272G>AMANE SELECT
NP_000363.1:p.Cys91Tyr
NC_000011.9:g.88911393G>A
P14679:p.Cys91Tyr

Protein change:

C91Y; CYS91TYR

Links:

UniProtKB: P14679#VAR_072593; OMIM: 606933.0038; dbSNP: rs137854890

NCBI 1000 Genomes Browser:

rs137854890

Molecular consequence:

NM_000372.5:c.272G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003440456	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jul 27, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 22981120, 30472657, 30996339, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003440456

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jul 27, 2023)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

A population-based study of autosomal-recessive disease-causing mutations in a founder population.

Chong JX, Ouwenga R, Anderson RL, Waggoner DJ, Ober C.

Am J Hum Genet. 2012 Oct 5;91(4):608-20. doi: 10.1016/j.ajhg.2012.08.007. Epub 2012 Sep 13.

PubMed [citation]

PMID:: 22981120
PMCID:: PMC3484657

Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene.

Monfermé S, Lasseaux E, Duncombe-Poulet C, Hamel C, Defoort-Dhellemmes S, Drumare I, Zanlonghi X, Dollfus H, Perdomo Y, Bonneau D, Korobelnik JF, Plaisant C, Michaud V, Pennamen P, Rooryck-Thambo C, Morice-Picard F, Paya C, Arveiler B.

Br J Ophthalmol. 2019 Sep;103(9):1239-1247. doi: 10.1136/bjophthalmol-2018-312729. Epub 2018 Nov 24.

PubMed [citation]

PMID:: 30472657

See all PubMed Citations (4)

Details of each submission

From Invitae, SCV003440456.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TYR protein function. This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 91 of the TYR protein (p.Cys91Tyr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with oculocutaneous albinism (PMID: 22981120, 30472657, 30996339). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 39977). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Jun 9, 2024

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