NM_001017995.2(SH3PXD2B):c.401+1G>A

Variation ID: Help
55933
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jun 1, 2014
Number of submission(s):
2
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_001017995.2(SH3PXD2B):c.401+1G>A

Allele ID:
70572
Variant type:
single nucleotide variant
Cytogenetic location:
5q35.1
Genomic location:
  • Chr5: 172382035 (on Assembly GRCh38)
  • Chr5: 171809039 (on Assembly GRCh37)
Other names:
  • IVS5DS, G-A, +1
HGVS:
  • NG_027746.2:g.77489G>A
  • NM_001017995.2:c.401+1G>A
  • NC_000005.10:g.172382035C>T (GRCh38)
  • NC_000005.9:g.171809039C>T (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs367543284
Molecular consequence:
NM_001017995.2:c.401+1G>A: splice donor variant [Sequence Ontology SO:0001575]

Variant frequency in dbGaP Help

NM_001017995.2(SH3PXD2B):c.401+1G>A

GRCh37 Chr5:171809039
Called variantsPotential variants
Sample countno data0 of 39751

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

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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
Pathogenicno assertion criteria providedliterature onlygermline
    Neurogenetics Research; Murdoch Childrens Research InstituteSCV000081774.1
    Pathogenic
    (Jun 1, 2014)
    no assertion criteria providedliterature onlygermlineOMIMSCV000255614.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot providednot providedgermlinenot providednot provided
    Neurogenetics Research; Murdoch Childrens Research Institutenot providednot providedgermlinenot providednot providednot providednot provided
    OMIMnot providednot providedgermlinenot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Apr 7, 2017