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NM_000345.4(SNCA):c.*1291_*1292insTTTTT AND Parkinson Disease, Dominant

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 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:
RCV000321894.5

Allele description [Variation Report for NM_000345.4(SNCA):c.*1291_*1292insTTTTT]

NM_000345.4(SNCA):c.*1291_*1292insTTTTT

Gene:
SNCA:synuclein alpha [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
4q22.1
Genomic location:
Preferred name:
NM_000345.4(SNCA):c.*1291_*1292insTTTTT
HGVS:
  • NC_000004.12:g.89725337_89725338insAAAAA
  • NG_011851.1:g.117960_117961insTTTTT
  • NM_000345.4:c.*1291_*1292insTTTTTMANE SELECT
  • NM_001146054.2:c.*1291_*1292insTTTTT
  • NM_001146055.2:c.*1291_*1292insTTTTT
  • NM_001375285.1:c.*1291_*1292insTTTTT
  • NM_001375286.1:c.*1291_*1292insTTTTT
  • NM_001375287.1:c.*1291_*1292insTTTTT
  • NM_001375288.1:c.*1291_*1292insTTTTT
  • NM_001375290.1:c.*1291_*1292insTTTTT
  • NM_007308.3:c.*1291_*1292insTTTTT
  • NC_000004.11:g.90646488_90646489insAAAAA
  • NM_000345.3:c.*1291_*1292insTTTTT
  • NR_164676.1:n.2012_2013insTTTTT
Links:
dbSNP: rs886059720
NCBI 1000 Genomes Browser:
rs886059720
Molecular consequence:
  • NM_000345.4:c.*1291_*1292insTTTTT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001146054.2:c.*1291_*1292insTTTTT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001146055.2:c.*1291_*1292insTTTTT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001375285.1:c.*1291_*1292insTTTTT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001375286.1:c.*1291_*1292insTTTTT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001375287.1:c.*1291_*1292insTTTTT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001375288.1:c.*1291_*1292insTTTTT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001375290.1:c.*1291_*1292insTTTTT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_007308.3:c.*1291_*1292insTTTTT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NR_164676.1:n.2012_2013insTTTTT - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Parkinson Disease, Dominant
Identifiers:
MedGen: CN239359

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000451620Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000451620.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 9, 2023