NM_000372.5(TYR):c.572del (p.Gly191fs) AND not provided

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Jan 29, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000085954.11

Allele description [Variation Report for NM_000372.5(TYR):c.572del (p.Gly191fs)]

NM_000372.5(TYR):c.572del (p.Gly191fs)

Gene:

TYR:tyrosinase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11q14.3

Genomic location:

Preferred name:

NM_000372.5(TYR):c.572del (p.Gly191fs)

Other names:

G191D

HGVS:

NC_000011.10:g.89178525del
NG_008748.1:g.5654del
NM_000372.5:c.572delMANE SELECT
NP_000363.1:p.Gly191fs
NC_000011.9:g.88911689del
NC_000011.9:g.88911693del
NM_000372.4:c.572delG

Protein change:

G191fs; GLY191ASP

Links:

OMIM: 606933.0015; dbSNP: rs61754361

NCBI 1000 Genomes Browser:

rs61754361

Molecular consequence:

NM_000372.5:c.572del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

SRX20585711 (1)
SRA
Erotelis smaragdus voucher NMBE 1066561 G protein-coupled receptor 85 (gpr85) ge...
Erotelis smaragdus voucher NMBE 1066561 G protein-coupled receptor 85 (gpr85) gene, partial cds
gi|526852291|gb|KF416168.1|

Nucleotide
Eleotris smaragdus voucher FCC8015 cytochrome oxidase subunit 1 (COI) gene, part...
Eleotris smaragdus voucher FCC8015 cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrial
gi|386687115|gnl|uoguelph|FCCA015-0 -5P|gb|JQ841889.1|

Nucleotide
Erotelis smaragdus voucher cn10e331 cytochrome oxidase subunit 1 (COI) gene, par...
Erotelis smaragdus voucher cn10e331 cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrial
gi|321480723|gnl|uoguelph|LIDMA334- I-5P|gb|HQ987858.1|

Nucleotide
two-component response regulator ARR11 isoform X2 [Glycine max]
two-component response regulator ARR11 isoform X2 [Glycine max]
gi|2027480115|ref|XP_040873987.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000118097	Retina International	no classification provided	not provided	unknown	not provided
SCV001764098	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (May 17, 2021)	germline	clinical testing	Citation Link,
SCV002246683	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 29, 2024)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 23504663, 1905879, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000118097

Retina International

no classification provided

not provided

unknown

not provided

SCV001764098

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(May 17, 2021)

germline

clinical testing

Citation Link,

SCV002246683

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jan 29, 2024)

germline

clinical testing

PubMed (3)
[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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
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

DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

Simeonov DR, Wang X, Wang C, Sergeev Y, Dolinska M, Bower M, Fischer R, Winer D, Dubrovsky G, Balog JZ, Huizing M, Hart R, Zein WM, Gahl WA, Brooks BP, Adams DR.

Hum Mutat. 2013 Jun;34(6):827-35. doi: 10.1002/humu.22315. Epub 2013 Apr 30. Review.

PubMed [citation]

PMID:: 23504663
PMCID:: PMC3959784

Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism.

Oetting WS, Mentink MM, Summers CG, Lewis RA, White JG, King RA.

Am J Hum Genet. 1991 Jul;49(1):199-206.

PubMed [citation]

PMID:: 1905879
PMCID:: PMC1683219

See all PubMed Citations (3)

Details of each submission

From Retina International, SCV000118097.1

#	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 GeneDx, SCV001764098.1

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 1905879)

#	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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002246683.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Gly191Aspfs*35) in the TYR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TYR are known to be pathogenic (PMID: 23504663). This variant is present in population databases (rs61754361, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with oculocutaneous albinism (PMID: 1905879). ClinVar contains an entry for this variant (Variation ID: 99570). 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: Oct 13, 2024

ClinVar

Relating variation to medicine