NM_001382273.1(TNK2):c.1088T>C (p.Val363Ala) AND Parkinson disease

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 1, 2016
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:: RCV000210445.1

Allele description [Variation Report for NM_001382273.1(TNK2):c.1088T>C (p.Val363Ala)]

NM_001382273.1(TNK2):c.1088T>C (p.Val363Ala)

Gene:

TNK2:tyrosine kinase non receptor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q29

Genomic location:

Preferred name:

NM_001382273.1(TNK2):c.1088T>C (p.Val363Ala)

HGVS:

NC_000003.12:g.195878519A>G
NG_029779.1:g.35491T>C
NM_001010938.2:c.1160T>C
NM_001308046.2:c.1184T>C
NM_001382271.1:c.1184T>C
NM_001382272.1:c.1160T>C
NM_001382273.1:c.1088T>CMANE SELECT
NM_001382274.1:c.1088T>C
NM_001382275.1:c.1184T>C
NM_001386164.1:c.1088T>C
NM_001387707.1:c.1184T>C
NM_001387708.1:c.1160T>C
NM_001387709.1:c.1088T>C
NM_001387710.1:c.1088T>C
NM_001387711.1:c.1088T>C
NM_001387712.1:c.1088T>C
NM_001387713.1:c.1088T>C
NM_001387714.1:c.1088T>C
NM_001387715.1:c.1160T>C
NM_001387716.1:c.1088T>C
NM_001387717.1:c.1088T>C
NM_001387718.1:c.1088T>C
NM_001387719.1:c.1088T>C
NM_001387720.1:c.1088T>C
NM_001387721.1:c.1088T>C
NM_005781.5:c.1088T>C
NP_001010938.2:p.Val387Ala
NP_001294975.1:p.Val395Ala
NP_001369200.1:p.Val395Ala
NP_001369201.1:p.Val387Ala
NP_001369202.1:p.Val363Ala
NP_001369203.1:p.Val363Ala
NP_001369204.1:p.Val395Ala
NP_001373093.1:p.Val363Ala
NP_001374636.1:p.Val395Ala
NP_001374637.1:p.Val387Ala
NP_001374638.1:p.Val363Ala
NP_001374639.1:p.Val363Ala
NP_001374640.1:p.Val363Ala
NP_001374641.1:p.Val363Ala
NP_001374642.1:p.Val363Ala
NP_001374643.1:p.Val363Ala
NP_001374644.1:p.Val387Ala
NP_001374645.1:p.Val363Ala
NP_001374646.1:p.Val363Ala
NP_001374647.1:p.Val363Ala
NP_001374648.1:p.Val363Ala
NP_001374649.1:p.Val363Ala
NP_001374650.1:p.Val363Ala
NP_005772.3:p.Val363Ala
NP_005772.3:p.Val363Ala
NC_000003.11:g.195605390A>G
NM_005781.4:c.1088T>C
NR_170678.1:n.1162T>C
NR_170679.1:n.1440T>C
NR_170680.1:n.1173T>C
NR_170681.1:n.1173T>C
NR_170682.1:n.1440T>C
NR_170683.1:n.1440T>C
NR_170684.1:n.1026T>C
NR_170685.1:n.1285T>C
NR_170686.1:n.1198T>C
NR_170687.1:n.1154T>C
NR_170688.1:n.1440T>C
NR_170689.1:n.1127T>C
NR_170690.1:n.938T>C
NR_170691.1:n.1285T>C
NR_170692.1:n.895T>C

Protein change:

V363A

Links:

dbSNP: rs370013968

NCBI 1000 Genomes Browser:

rs370013968

Molecular consequence:

NM_001010938.2:c.1160T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001308046.2:c.1184T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382271.1:c.1184T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382272.1:c.1160T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382273.1:c.1088T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382274.1:c.1088T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382275.1:c.1184T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001386164.1:c.1088T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387707.1:c.1184T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387708.1:c.1160T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387709.1:c.1088T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387710.1:c.1088T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387711.1:c.1088T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387712.1:c.1088T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387713.1:c.1088T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387714.1:c.1088T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387715.1:c.1160T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387716.1:c.1088T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387717.1:c.1088T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387718.1:c.1088T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387719.1:c.1088T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387720.1:c.1088T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387721.1:c.1088T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_005781.5:c.1088T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_170678.1:n.1162T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170679.1:n.1440T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170680.1:n.1173T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170681.1:n.1173T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170682.1:n.1440T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170683.1:n.1440T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170684.1:n.1026T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170685.1:n.1285T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170686.1:n.1198T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170687.1:n.1154T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170688.1:n.1440T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170689.1:n.1127T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170690.1:n.938T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170691.1:n.1285T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170692.1:n.895T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Parkinson disease (PD)
Identifiers:: MONDO: MONDO:0005180; MeSH: D010300; MedGen: C0030567; OMIM: PS168600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000266507	Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	criteria provided, single submitter (Farlow et al. (JAMA Neurol 2016))	Uncertain significance (Jan 1, 2016)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000266507

Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

criteria provided, single submitter

(Farlow et al. (JAMA Neurol 2016))

Uncertain significance
(Jan 1, 2016)

germline

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	1	not provided	not provided	no	research

Citations

PubMed

Whole-Exome Sequencing in Familial Parkinson Disease.

Farlow JL, Robak LA, Hetrick K, Bowling K, Boerwinkle E, Coban-Akdemir ZH, Gambin T, Gibbs RA, Gu S, Jain P, Jankovic J, Jhangiani S, Kaw K, Lai D, Lin H, Ling H, Liu Y, Lupski JR, Muzny D, Porter P, Pugh E, White J, et al.

JAMA Neurol. 2016 Jan;73(1):68-75. doi: 10.1001/jamaneurol.2015.3266.

PubMed [citation]

PMID:: 26595808
PMCID:: PMC4946647

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000266507.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	no	research	PubMed (1)

#	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		1	not provided	1	not provided

Last Updated: Apr 23, 2022

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