NM_000372.5(TYR):c.286dup (p.Met96fs) AND Abnormality of the skin

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 10, 2021
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:: RCV001813947.9

Allele description [Variation Report for NM_000372.5(TYR):c.286dup (p.Met96fs)]

NM_000372.5(TYR):c.286dup (p.Met96fs)

Gene:

TYR:tyrosinase [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

11q14.3

Genomic location:

Preferred name:

NM_000372.5(TYR):c.286dup (p.Met96fs)

Other names:

M96N

HGVS:

NC_000011.10:g.89178239dup
NG_008748.1:g.5368dup
NM_000372.5:c.286dupMANE SELECT
NP_000363.1:p.Met96fs
NC_000011.9:g.88911406_88911407insA
NC_000011.9:g.88911407dup
NM_000372.4:c.286dup
NM_000372.4:c.286dupA
NM_000372.5:c.286dupAMANE SELECT
NP_000363.1:p.Met96fs

Protein change:

M96fs; MET96ASN

Links:

OMIM: 606933.0018; dbSNP: rs61753190

NCBI 1000 Genomes Browser:

rs61753190

Molecular consequence:

NM_000372.5:c.286dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Abnormality of the skin
Identifiers:: MedGen: C5848159; Human Phenotype Ontology: HP:0000951

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001755130	Kariminejad - Najmabadi Pathology & Genetics Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 10, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001755130

Kariminejad - Najmabadi Pathology & Genetics Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jul 10, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Kariminejad - Najmabadi Pathology & Genetics Center, SCV001755130.1

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

#	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

Last Updated: Nov 10, 2024

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