NM_004562.3(PRKN):c.719C>T (p.Thr240Met) AND Young-onset Parkinson disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 3, 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:: RCV001449638.3

Allele description [Variation Report for NM_004562.3(PRKN):c.719C>T (p.Thr240Met)]

NM_004562.3(PRKN):c.719C>T (p.Thr240Met)

Gene:

PRKN:parkin RBR E3 ubiquitin protein ligase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q26

Genomic location:

Preferred name:

NM_004562.3(PRKN):c.719C>T (p.Thr240Met)

HGVS:

NC_000006.12:g.161973317G>A
NG_008289.2:g.759486C>T
NM_004562.3:c.719C>TMANE SELECT
NM_013987.3:c.635C>T
NM_013988.3:c.272C>T
NP_004553.2:p.Thr240Met
NP_054642.2:p.Thr212Met
NP_054643.2:p.Thr91Met
NC_000006.11:g.162394349G>A
NM_004562.2:c.719C>T
O60260:p.Thr240Met
p.THR240MET

Protein change:

T212M; THR240MET

Links:

UniProtKB: O60260#VAR_019747; OMIM: 602544.0021; dbSNP: rs137853054

NCBI 1000 Genomes Browser:

rs137853054

Molecular consequence:

NM_004562.3:c.719C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_013987.3:c.635C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_013988.3:c.272C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Young-onset Parkinson disease
Identifiers:: MONDO: MONDO:0017279; MedGen: C4275179; Orphanet: 2828

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001652819	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 3, 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

SCV001652819

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 3, 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 Fulgent Genetics, Fulgent Genetics, SCV001652819.1

#	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: Oct 20, 2024

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