NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro) AND Early onset Alzheimer disease with behavioral disturbance

Germline classification:: no classifications from unflagged records (1 submission)
Last evaluated:: Nov 29, 2023
Review status:: no classifications from unflagged records

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:: RCV000984891.4

Allele description [Variation Report for NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro)]

NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro)

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.4883G>C (p.Arg1628Pro)

HGVS:

NC_000012.12:g.40320043G>C
NG_011709.1:g.100033G>C
NM_198578.4:c.4883G>CMANE SELECT
NP_940980.4:p.Arg1628Pro
NC_000012.11:g.40713845G>C
NM_198578.3:c.4883G>C
Q5S007:p.Arg1628Pro

Protein change:

R1628P

Links:

UniProtKB: Q5S007#VAR_024951; dbSNP: rs33949390

NCBI 1000 Genomes Browser:

rs33949390

Molecular consequence:

NM_198578.4:c.4883G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Early onset Alzheimer disease with behavioral disturbance
Identifiers:: MedGen: C3697680

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No clinical assertions found. See "Flagged submissions" below.

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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	provider interpretation

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, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 20301387

Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease.

Ross OA, Wu YR, Lee MC, Funayama M, Chen ML, Soto AI, Mata IF, Lee-Chen GJ, Chen CM, Tang M, Zhao Y, Hattori N, Farrer MJ, Tan EK, Wu RM.

Ann Neurol. 2008 Jul;64(1):88-92. doi: 10.1002/ana.21405.

PubMed [citation]

PMID:: 18412265

Details of each submission

From Codex Genetics Limited, SCV000996008.1

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

#	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

Flagged submissions

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000996008	Codex Genetics Limited	flagged submission Reason: Outlier claim with insufficient supporting evidence Notes: None	Likely pathogenic (Feb 28, 2019)	germline	provider interpretation	PubMed (2) [See all records that cite these PMIDs] 20301387, 18412265

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000996008

Codex Genetics Limited

flagged submission

Reason: Outlier claim with insufficient supporting evidence

Notes: None

Likely pathogenic
(Feb 28, 2019)

germline

provider interpretation

PubMed (2)
[See all records that cite these PMIDs]

Last Updated: Apr 20, 2024

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