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NM_198578.4(LRRK2):c.6441T>C (p.Pro2147=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 21, 2022
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:
RCV002361802.2

Allele description [Variation Report for NM_198578.4(LRRK2):c.6441T>C (p.Pro2147=)]

NM_198578.4(LRRK2):c.6441T>C (p.Pro2147=)

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.6441T>C (p.Pro2147=)
HGVS:
  • NC_000012.12:g.40351598T>C
  • NG_011709.1:g.131588T>C
  • NG_011709.2:g.131603T>C
  • NM_198578.4:c.6441T>CMANE SELECT
  • NP_940980.4:p.Pro2147=
  • NC_000012.11:g.40745400T>C
  • NM_198578.3:c.6441T>C
Molecular consequence:
  • NM_198578.4:c.6441T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002658722Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Feb 21, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002658722.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024