NM_198578.4(LRRK2):c.6844C>G (p.Leu2282Val) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 19, 2023
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:: RCV004517974.1

Allele description [Variation Report for NM_198578.4(LRRK2):c.6844C>G (p.Leu2282Val)]

NM_198578.4(LRRK2):c.6844C>G (p.Leu2282Val)

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.6844C>G (p.Leu2282Val)

HGVS:

NC_000012.12:g.40359260C>G
NG_011709.1:g.139250C>G
NG_011709.2:g.139265C>G
NM_198578.4:c.6844C>GMANE SELECT
NP_940980.4:p.Leu2282Val
NC_000012.11:g.40753062C>G
NM_198578.3:c.6844C>G

Protein change:

L2282V

Molecular consequence:

NM_198578.4:c.6844C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

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Saccharomyces cerevisiae S288C uncharacterized protein (YPR148C), partial mRNA
Saccharomyces cerevisiae S288C uncharacterized protein (YPR148C), partial mRNA
gi|296148784|ref|NM_001184245.1|

Nucleotide
Saccharomyces cerevisiae S288C carbamoyl-phosphate synthase (glutamine-hydrolyzi...
Saccharomyces cerevisiae S288C carbamoyl-phosphate synthase (glutamine-hydrolyzing) CPA2 (CPA2), partial mRNA
gi|398365400|ref|NM_001181767.3|

Nucleotide
cytochrome c oxidase subunit 1, partial (mitochondrion) [Cionus hortulanus]
cytochrome c oxidase subunit 1, partial (mitochondrion) [Cionus hortulanus]
gi|1837663015|gb|QJP22889.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005031500	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 19, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005031500

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 19, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV005031500.1

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

Description

The p.L2282V variant (also known as c.6844C>G) is located in coding exon 47 of the LRRK2 gene. The leucine at codon 2282 is replaced by valine, an amino acid with highly similar properties. This change occurs in the first base pair of coding exon 47. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024

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