NM_002222.5(ITPR1):c.3176C>T (p.Pro1059Leu)

Variation ID: Help
14801
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jun 12, 2014
Number of submission(s):
2
Condition(s):
Spinocerebellar ataxia 15[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_002222.5(ITPR1):c.3176C>T (p.Pro1059Leu)

Allele ID:
29840
Variant type:
single nucleotide variant
Cytogenetic location:
3p26
Genomic location:
  • Chr3: 4683472 (on Assembly GRCh38)
  • Chr3: 4725156 (on Assembly GRCh37)
Protein change:
P1059L, P1068L, P1074L
HGVS:
  • NG_016144.1:g.195125C>T
  • NM_001099952.2:c.3221C>T
  • NM_001168272.1:c.3203C>T
  • NM_002222.5:c.3176C>T
  • NP_001093422.2:p.Pro1074Leu
  • NP_001161744.1:p.Pro1068Leu
  • NP_002213.5:p.Pro1059Leu
  • NC_000003.12:g.4683472C>T (GRCh38)
  • NC_000003.11:g.4725156C>T (GRCh37)
  • NM_002222.4:c.3176C>T
  • NP_002213.4:p.Pro1059Leu
Links:
NCBI 1000 Genomes Browser:
rs121912425
Molecular consequence:
NM_001168272.1:c.3203C>T: missense variant [Sequence Ontology SO:0001583]

1 Affected gene

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Aug 19, 2008)
no assertion criteria providedliterature onlygermlineOMIMSCV000036191.2
Pathogenic
(Jun 12, 2014)
no assertion criteria providedliterature onlygermlineGeneReviewsSCV000166000.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedgermlinenot providednot provided
GeneReviewsnot providednot providedgermlinenot providednot providednot provided
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Oct 21, 2017