NM_198578.4(LRRK2):c.1250C>T (p.Ala417Val) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 28, 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:: RCV003362777.2

Allele description [Variation Report for NM_198578.4(LRRK2):c.1250C>T (p.Ala417Val)]

NM_198578.4(LRRK2):c.1250C>T (p.Ala417Val)

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.1250C>T (p.Ala417Val)

HGVS:

NC_000012.12:g.40252978C>T
NG_011709.1:g.32968C>T
NM_198578.3:c.1250C>T
NM_198578.4:c.1250C>TMANE SELECT
NP_940980.4:p.Ala417Val
NC_000012.11:g.40646780C>T

Protein change:

A417V

Links:

dbSNP: rs1057519199

NCBI 1000 Genomes Browser:

rs1057519199

Molecular consequence:

NM_198578.4:c.1250C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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Croton killipianus (24437)
Nucleotide
CG17806-PA (LD32088p)
CG17806-PA (LD32088p)
gi|75026799|sp|Q9VEF3|Q9VEF3_DROME

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004055164	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 28, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004055164

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 28, 2023)

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, SCV004055164.2

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

Description

The p.A417V variant (also known as c.1250C>T), located in coding exon 11 of the LRRK2 gene, results from a C to T substitution at nucleotide position 1250. The alanine at codon 417 is replaced by valine, an amino acid with similar properties. 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: Oct 20, 2024

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