NM_018206.6(VPS35):c.151G>A (p.Gly51Ser) AND Parkinson disease 17

Clinical significance:Benign (Last evaluated: Oct 7, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000577720.3

Allele description [Variation Report for NM_018206.6(VPS35):c.151G>A (p.Gly51Ser)]

NM_018206.6(VPS35):c.151G>A (p.Gly51Ser)

Gene:
VPS35:VPS35 retromer complex component [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q11.2
Genomic location:
Preferred name:
NM_018206.6(VPS35):c.151G>A (p.Gly51Ser)
HGVS:
  • NC_000016.10:g.46682127C>T
  • NG_029970.1:g.12106G>A
  • NM_018206.6:c.151G>AMANE SELECT
  • NP_060676.2:p.Gly51Ser
  • NP_060676.2:p.Gly51Ser
  • NC_000016.9:g.46716039C>T
  • NM_018206.4:c.151G>A
  • NM_018206.5:c.151G>A
Protein change:
G51S
Links:
dbSNP: rs193077277
NCBI 1000 Genomes Browser:
rs193077277
Molecular consequence:
  • NM_018206.6:c.151G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Parkinson disease 17 (PARK17)
Identifiers:
MONDO: MONDO:0013625; MedGen: C3280133; Orphanet: 411602; OMIM: 614203

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000679654GeneReviewsno assertion criteria providedUncertain significance
(Apr 19, 2017)
germlineliterature only

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

SCV001019988Invitaecriteria provided, single submitter
Benign
(Oct 7, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only, clinical testing

Citations

PubMed

VPS35-Related Parkinson Disease.

Deutschländer A, Ross OA, Wszolek ZK.

2017 Aug 10. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.

PubMed [citation]
PMID:
28796472

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From GeneReviews, SCV000679654.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Invitae, SCV001019988.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 16, 2021

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