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NM_004993.6(ATXN3):c.916_917insCAGCAGCAGCAGCAGC (p.Gly306fs) AND not provided

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001356910.1

Allele description [Variation Report for NM_004993.6(ATXN3):c.916_917insCAGCAGCAGCAGCAGC (p.Gly306fs)]

NM_004993.6(ATXN3):c.916_917insCAGCAGCAGCAGCAGC (p.Gly306fs)

Gene:
ATXN3:ataxin 3 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
14q32.12
Genomic location:
Preferred name:
NM_004993.6(ATXN3):c.916_917insCAGCAGCAGCAGCAGC (p.Gly306fs)
HGVS:
  • NC_000014.9:g.92071009_92071010insGCTGCTGCTGCTGCTG
  • NG_008198.2:g.40612_40613insCAGCAGCAGCAGCAGC
  • NG_051545.1:g.99_100insGCTGCTGCTGCTGCTG
  • NM_001127696.2:c.871_872insCAGCAGCAGCAGCAGC
  • NM_001127697.3:c.763_764insCAGCAGCAGCAGCAGC
  • NM_001164774.2:c.233_234insCAGCAGCAGCAGCAGC
  • NM_001164776.2:c.278_279insCAGCAGCAGCAGCAGC
  • NM_001164777.2:c.113_114insCAGCAGCAGCAGCAGC
  • NM_001164778.2:c.431_432insCAGCAGCAGCAGCAGC
  • NM_001164779.2:c.553_554insCAGCAGCAGCAGCAGC
  • NM_001164780.2:c.379_380insCAGCAGCAGCAGCAGC
  • NM_001164781.2:c.706_707insCAGCAGCAGCAGCAGC
  • NM_001164782.2:c.68_69insCAGCAGCAGCAGCAGC
  • NM_004993.6:c.916_917insCAGCAGCAGCAGCAGCMANE SELECT
  • NM_030660.5:c.751_752insCAGCAGCAGCAGCAGC
  • NP_001121168.1:p.Gly291fs
  • NP_001121169.2:p.Gly255fs
  • NP_001158246.1:p.Gly79fs
  • NP_001158248.1:p.Gly94fs
  • NP_001158249.1:p.Gly39fs
  • NP_001158250.1:p.Gly145fs
  • NP_001158251.1:p.Gly185fs
  • NP_001158252.1:p.Gly127fs
  • NP_001158253.1:p.Gly236fs
  • NP_001158254.1:p.Gly24fs
  • NP_004984.2:p.Gly306fs
  • NP_109376.1:p.Gly251fs
  • LRG_865t1:c.916_917insCAGCAGCAGCAGCAGC
  • LRG_865:g.40612_40613insCAGCAGCAGCAGCAGC
  • LRG_865p1:p.Gly306fs
  • NC_000014.8:g.92537353_92537354insGCTGCTGCTGCTGCTG
  • NR_028453.2:n.860_861insCAGCAGCAGCAGCAGC
  • NR_028454.2:n.695_696insCAGCAGCAGCAGCAGC
  • NR_028455.2:n.914_915insCAGCAGCAGCAGCAGC
  • NR_028456.2:n.749_750insCAGCAGCAGCAGCAGC
  • NR_028457.2:n.1005_1006insCAGCAGCAGCAGCAGC
  • NR_028458.2:n.849_850insCAGCAGCAGCAGCAGC
  • NR_028459.2:n.1000_1001insCAGCAGCAGCAGCAGC
  • NR_028460.2:n.375_376insCAGCAGCAGCAGCAGC
  • NR_028461.2:n.858_859insCAGCAGCAGCAGCAGC
  • NR_028462.2:n.837_838insCAGCAGCAGCAGCAGC
  • NR_028463.2:n.549_550insCAGCAGCAGCAGCAGC
  • NR_028464.2:n.847_848insCAGCAGCAGCAGCAGC
  • NR_028465.2:n.869_870insCAGCAGCAGCAGCAGC
  • NR_028466.2:n.495_496insCAGCAGCAGCAGCAGC
  • NR_028467.2:n.861_862insCAGCAGCAGCAGCAGC
  • NR_028468.2:n.693_694insCAGCAGCAGCAGCAGC
  • NR_028469.2:n.707_708insCAGCAGCAGCAGCAGC
  • NR_028470.2:n.165_166insCAGCAGCAGCAGCAGC
  • NR_031765.2:n.362_363insCAGCAGCAGCAGCAGC
Protein change:
G127fs
Links:
dbSNP: rs763461489
NCBI 1000 Genomes Browser:
rs763461489
Molecular consequence:
  • NM_001127696.2:c.871_872insCAGCAGCAGCAGCAGC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127697.3:c.763_764insCAGCAGCAGCAGCAGC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001164774.2:c.233_234insCAGCAGCAGCAGCAGC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001164776.2:c.278_279insCAGCAGCAGCAGCAGC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001164777.2:c.113_114insCAGCAGCAGCAGCAGC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001164778.2:c.431_432insCAGCAGCAGCAGCAGC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001164779.2:c.553_554insCAGCAGCAGCAGCAGC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001164780.2:c.379_380insCAGCAGCAGCAGCAGC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001164781.2:c.706_707insCAGCAGCAGCAGCAGC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001164782.2:c.68_69insCAGCAGCAGCAGCAGC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004993.6:c.916_917insCAGCAGCAGCAGCAGC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_030660.5:c.751_752insCAGCAGCAGCAGCAGC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_028453.2:n.860_861insCAGCAGCAGCAGCAGC - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_028454.2:n.695_696insCAGCAGCAGCAGCAGC - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_028455.2:n.914_915insCAGCAGCAGCAGCAGC - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_028456.2:n.749_750insCAGCAGCAGCAGCAGC - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_028457.2:n.1005_1006insCAGCAGCAGCAGCAGC - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_028458.2:n.849_850insCAGCAGCAGCAGCAGC - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_028459.2:n.1000_1001insCAGCAGCAGCAGCAGC - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_028460.2:n.375_376insCAGCAGCAGCAGCAGC - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_028461.2:n.858_859insCAGCAGCAGCAGCAGC - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_028462.2:n.837_838insCAGCAGCAGCAGCAGC - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_028463.2:n.549_550insCAGCAGCAGCAGCAGC - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_028464.2:n.847_848insCAGCAGCAGCAGCAGC - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_028465.2:n.869_870insCAGCAGCAGCAGCAGC - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_028466.2:n.495_496insCAGCAGCAGCAGCAGC - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_028467.2:n.861_862insCAGCAGCAGCAGCAGC - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_028468.2:n.693_694insCAGCAGCAGCAGCAGC - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_028469.2:n.707_708insCAGCAGCAGCAGCAGC - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_028470.2:n.165_166insCAGCAGCAGCAGCAGC - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_031765.2:n.362_363insCAGCAGCAGCAGCAGC - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001552197Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Uncertain significanceunknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001552197.1

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

Last Updated: Dec 24, 2023