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NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 31, 2018
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:
RCV000763143.3

Allele description [Variation Report for NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)]

NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)

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.823C>T (p.Arg275Trp)
HGVS:
  • NC_000006.12:g.161785820G>A
  • NG_008289.2:g.946983C>T
  • NM_004562.3:c.823C>TMANE SELECT
  • NM_013987.3:c.739C>T
  • NM_013988.3:c.376C>T
  • NP_004553.2:p.Arg275Trp
  • NP_054642.2:p.Arg247Trp
  • NP_054643.2:p.Arg126Trp
  • NC_000006.11:g.162206852G>A
  • NM_004562.2:c.823C>T
  • O60260:p.Arg275Trp
Protein change:
R126W; ARG275TRP
Links:
UniProtKB: O60260#VAR_019752; OMIM: 602544.0017; dbSNP: rs34424986
NCBI 1000 Genomes Browser:
rs34424986
Molecular consequence:
  • NM_004562.3:c.823C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_013987.3:c.739C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_013988.3:c.376C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Leprosy, susceptibility to, 2
Synonyms:
LPRS2; Leprosy 2
Identifiers:
MONDO: MONDO:0011860; MedGen: C1843632; Orphanet: 548; OMIM: 607572
Name:
Lung carcinoma
Identifiers:
MONDO: MONDO:0005138; MedGen: C0684249
Name:
Autosomal recessive juvenile Parkinson disease 2
Synonyms:
PARKINSON DISEASE, JUVENILE, AUTOSOMAL RECESSIVE; Parkinson disease autosomal recessive, early onset; Juvenile parkinsonism; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010820; MedGen: C1868675; Orphanet: 2828; OMIM: 600116
Name:
Ovarian neoplasm
Synonyms:
Neoplasm of ovary; Ovarian tumor; Ovarian Neoplasms
Identifiers:
MONDO: MONDO:0021068; MeSH: D010051; MedGen: C0919267; Human Phenotype Ontology: HP:0100615

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000893705Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Oct 31, 2018) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical 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
PMC

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.

Genetics in medicine : official journal of the American College of Medical Genetics. 2015 Mar 5; 17(5): 405-424

PMC [article]
PMCID:
PMC4544753
PMID:
25741868
DOI:
10.1038/gim.2015.30

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV000893705.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 13, 2025