NM_000550.3(TYRP1):c.1314C>A (p.Tyr438Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 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:: RCV001875609.4

Allele description [Variation Report for NM_000550.3(TYRP1):c.1314C>A (p.Tyr438Ter)]

NM_000550.3(TYRP1):c.1314C>A (p.Tyr438Ter)

Genes:

LURAP1L-AS1:LURAP1L antisense RNA 1 [Gene - HGNC]
TYRP1:tyrosinase related protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p23

Genomic location:

Preferred name:

NM_000550.3(TYRP1):c.1314C>A (p.Tyr438Ter)

HGVS:

NC_000009.12:g.12708049C>A
NG_011705.1:g.19664C>A
NM_000550.3:c.1314C>AMANE SELECT
NP_000541.1:p.Tyr438Ter
NC_000009.11:g.12708049C>A

Protein change:

Y438*

Links:

dbSNP: rs753192557

NCBI 1000 Genomes Browser:

rs753192557

Molecular consequence:

NM_000550.3:c.1314C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Ammecr1l AMME chromosomal region gene 1-like [Mus musculus]
Ammecr1l AMME chromosomal region gene 1-like [Mus musculus]
Gene ID:225339

Gene
225339[uid] AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002151287	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Dec 14, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 8651291, 9345097, 27734839, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002151287

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Dec 14, 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

Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3".

Boissy RE, Zhao H, Oetting WS, Austin LM, Wildenberg SC, Boissy YL, Zhao Y, Sturm RA, Hearing VJ, King RA, Nordlund JJ.

Am J Hum Genet. 1996 Jun;58(6):1145-56.

PubMed [citation]

PMID:: 8651291
PMCID:: PMC1915069

Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene.

Manga P, Kromberg JG, Box NF, Sturm RA, Jenkins T, Ramsay M.

Am J Hum Genet. 1997 Nov;61(5):1095-101.

PubMed [citation]

PMID:: 9345097
PMCID:: PMC1716031

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002151287.3

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

Description

This sequence change creates a premature translational stop signal (p.Tyr438*) in the TYRP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TYRP1 are known to be pathogenic (PMID: 8651291, 9345097). This variant is present in population databases (rs753192557, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with clinical features of oculocutaneous albinism (PMID: 27734839). ClinVar contains an entry for this variant (Variation ID: 1387595). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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: Sep 29, 2024

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