NM_000372.5(TYR):c.616G>A (p.Ala206Thr) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Apr 14, 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:: RCV000085958.6

Allele description [Variation Report for NM_000372.5(TYR):c.616G>A (p.Ala206Thr)]

NM_000372.5(TYR):c.616G>A (p.Ala206Thr)

Gene:

TYR:tyrosinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q14.3

Genomic location:

Preferred name:

NM_000372.5(TYR):c.616G>A (p.Ala206Thr)

HGVS:

NC_000011.10:g.89178569G>A
NG_008748.1:g.5698G>A
NM_000372.5:c.616G>AMANE SELECT
NP_000363.1:p.Ala206Thr
NC_000011.9:g.88911737G>A
NM_000372.4:c.616G>A
P14679:p.Ala206Thr

Protein change:

A206T; ALA206THR

Links:

UniProtKB: P14679#VAR_007663; OMIM: 606933.0021; dbSNP: rs28940880

NCBI 1000 Genomes Browser:

rs28940880

Molecular consequence:

NM_000372.5:c.616G>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
SCV000118101	Retina International	no classification provided	not provided	unknown	not provided
SCV003244855	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Apr 14, 2023)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 1429711, 9242509, 11284711, 18463683, 20861488, 27734839, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000118101

Retina International

no classification provided

not provided

unknown

not provided

SCV003244855

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Apr 14, 2023)

germline

clinical testing

PubMed (7)
[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
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

Mutational mapping of the catalytic activities of human tyrosinase.

Tripathi RK, Hearing VJ, Urabe K, Aroca P, Spritz RA.

J Biol Chem. 1992 Nov 25;267(33):23707-12.

PubMed [citation]

PMID:: 1429711

Mutational analysis of copper binding by human tyrosinase.

Spritz RA, Ho L, Furumura M, Hearing VJ Jr.

J Invest Dermatol. 1997 Aug;109(2):207-12.

PubMed [citation]

PMID:: 9242509

See all PubMed Citations (7)

Details of each submission

From Retina International, SCV000118101.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	not provided

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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003244855.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

Description

This variant is present in population databases (rs28940880, gnomAD 0.0009%). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects TYR function (PMID: 1429711, 9242509, 11284711). 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 not expected to disrupt TYR protein function. ClinVar contains an entry for this variant (Variation ID: 3791). This missense change has been observed in individuals with oculocutaneous albinism (PMID: 18463683, 20861488, 27734839). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 206 of the TYR protein (p.Ala206Thr).

#	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: Sep 29, 2024

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