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NM_000550.3(TYRP1):c.418G>T (p.Glu140Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 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:
RCV001975027.4

Allele description [Variation Report for NM_000550.3(TYRP1):c.418G>T (p.Glu140Ter)]

NM_000550.3(TYRP1):c.418G>T (p.Glu140Ter)

Gene:
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.418G>T (p.Glu140Ter)
HGVS:
  • NC_000009.12:g.12695547G>T
  • NG_011705.1:g.7162G>T
  • NM_000550.2:c.418G>T
  • NM_000550.3:c.418G>TMANE SELECT
  • NP_000541.1:p.Glu140Ter
  • NC_000009.11:g.12695547G>T
Protein change:
E140*
Links:
dbSNP: rs371209698
NCBI 1000 Genomes Browser:
rs371209698
Molecular consequence:
  • NM_000550.3:c.418G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002247331Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Nov 27, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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, SCV002247331.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Glu140*) 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 (rs371209698, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with oculocutaneous albinism (PMID: 27734839). ClinVar contains an entry for this variant (Variation ID: 1458626). 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024