NM_198578.4(LRRK2):c.7525A>G (p.Lys2509Glu) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 29, 2024
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:: RCV004518010.1

Allele description [Variation Report for NM_198578.4(LRRK2):c.7525A>G (p.Lys2509Glu)]

NM_198578.4(LRRK2):c.7525A>G (p.Lys2509Glu)

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.7525A>G (p.Lys2509Glu)

HGVS:

NC_000012.12:g.40367706A>G
NG_011709.1:g.147696A>G
NG_011709.2:g.147711A>G
NM_198578.4:c.7525A>GMANE SELECT
NP_940980.4:p.Lys2509Glu
NC_000012.11:g.40761508A>G
NM_198578.3:c.7525A>G

Protein change:

K2509E

Molecular consequence:

NM_198578.4:c.7525A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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cytochrome oxidase subunit 1, partial (mitochondrion) [Cionus hortulanus]
cytochrome oxidase subunit 1, partial (mitochondrion) [Cionus hortulanus]
gi|695087294|gb|AIS79237.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005031761	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 29, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005031761

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 29, 2024)

germline

clinical testing

Citation Link

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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, SCV005031761.1

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

Description

The p.K2509E variant (also known as c.7525A>G), located in coding exon 51 of the LRRK2 gene, results from an A to G substitution at nucleotide position 7525. The lysine at codon 2509 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, 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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