NM_198578.4(LRRK2):c.6091A>T (p.Thr2031Ser) AND Autosomal dominant Parkinson disease 8

Germline classification:: not provided (1 submission)
Review status:: no classification provided

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:: RCV000032493.3

Allele description [Variation Report for NM_198578.4(LRRK2):c.6091A>T (p.Thr2031Ser)]

NM_198578.4(LRRK2):c.6091A>T (p.Thr2031Ser)

Gene:

LRRK2:leucine rich repeat kinase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q12

Genomic location:

Preferred name:

NM_198578.4(LRRK2):c.6091A>T (p.Thr2031Ser)

HGVS:

NC_000012.12:g.40340436A>T
NG_011709.1:g.120426A>T
NM_198578.4:c.6091A>TMANE SELECT
NP_940980.4:p.Thr2031Ser
NC_000012.11:g.40734238A>T
NM_198578.3:c.6091A>T

Protein change:

T2031S

Links:

dbSNP: rs78029637

NCBI 1000 Genomes Browser:

rs78029637

Molecular consequence:

NM_198578.4:c.6091A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autosomal dominant Parkinson disease 8
Synonyms:: Parkinson disease 8; Parkinson disease 8, susceptibility to; LRRK2-Related Parkinson Disease
Identifiers:: MONDO: MONDO:0011764; MedGen: C1846862; Orphanet: 411602; OMIM: 607060

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000056156	GeneReviews	no classification provided	not provided	unknown	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000056156

GeneReviews

no classification provided

not provided

unknown

literature only

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	unknown	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

LRRK2 Parkinson Disease.

Saunders-Pullman R, Raymond D, Elango S.

2006 Nov 2 [updated 2023 Jul 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 20301387

Details of each submission

From GeneReviews, SCV000056156.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	not provided	not provided	not provided	Assert pathogenicity		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2022

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