NM_000550.3(TYRP1):c.1354A>G (p.Met452Val) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 22, 2022
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:: RCV001857181.4

Allele description [Variation Report for NM_000550.3(TYRP1):c.1354A>G (p.Met452Val)]

NM_000550.3(TYRP1):c.1354A>G (p.Met452Val)

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.1354A>G (p.Met452Val)

HGVS:

NC_000009.12:g.12708089A>G
NG_011705.1:g.19704A>G
NM_000550.3:c.1354A>GMANE SELECT
NP_000541.1:p.Met452Val
NC_000009.11:g.12708089A>G
NM_000550.2:c.1354A>G

Protein change:

M452V

Links:

dbSNP: rs761776915

NCBI 1000 Genomes Browser:

rs761776915

Molecular consequence:

NM_000550.3:c.1354A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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histone H3, partial [Berghia rissodominguezi]
histone H3, partial [Berghia rissodominguezi]
gi|444486474|gb|AGE10896.1|

Protein
TRNAH3 (0)
Protein Family Models
Ceratocephale cf. loveni EB-65 16S ribosomal RNA gene, partial sequence; mitocho...
Ceratocephale cf. loveni EB-65 16S ribosomal RNA gene, partial sequence; mitochondrial
gi|1512483069|gb|MH379973.1|

Nucleotide
Ceratocephale abyssorum 5.8S ribosomal RNA gene, partial sequence; internal tran...
Ceratocephale abyssorum 5.8S ribosomal RNA gene, partial sequence; internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequence
gi|288815038|gb|GQ426737.1|

Nucleotide
TRNAH3 AND 1[s_discriminator] (0)
dbGaP

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002109608	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 22, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 18326704, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002109608

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 22, 2022)

germline

clinical testing

PubMed (2)
[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 comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.

Hutton SM, Spritz RA.

Invest Ophthalmol Vis Sci. 2008 Mar;49(3):868-72. doi: 10.1167/iovs.07-0791.

PubMed [citation]

PMID:: 18326704

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002109608.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 452 of the TYRP1 protein (p.Met452Val). This variant is present in population databases (rs761776915, gnomAD 0.008%). This missense change has been observed in individual(s) with clinical features of ocular albinism (PMID: 18326704). This variant is also known as c.1351A>G (p.Met451Val). ClinVar contains an entry for this variant (Variation ID: 437184). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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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