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NM_016038.3(SBDS):c.652C>T (p.Arg218Ter)

Variation ID: Help
21545
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jul 17, 2008
Number of submission(s):
1
Condition(s):
Shwachman syndrome[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_016038.3(SBDS):c.652C>T (p.Arg218Ter)

Allele ID:
34397
Variant type:
single nucleotide variant
Cytogenetic location:
7q11.21
Genomic location:
  • Chr7: 66988472 (on Assembly GRCh38)
  • Chr7: 66453459 (on Assembly GRCh37)
Protein change:
R218*
HGVS:
  • NG_007277.1:g.12130C>T
  • NM_016038.3:c.652C>T
  • NP_057122.2:p.Arg218Ter
  • NC_000007.14:g.66988472G>A (GRCh38)
  • LRG_104t1:c.652C>T
  • NC_000007.13:g.66453459G>A (GRCh37)
  • NM_016038.2:c.652C>T
  • LRG_104p1:p.Arg218Ter
  • LRG_104:g.12130C>T
Links:
NCBI 1000 Genomes Browser:
rs113993998
Molecular consequence:
NM_016038.3:c.652C>T: nonsense [Sequence Ontology SO:0001587]
Allele frequency:
  • Exome Aggregation Consortium (ExAC) 0.00001
  • The Genome Aggregation Database (gnomAD), exomes 0.00001

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
(Jul 17, 2008)
no assertion criteria providedcurationnot providedGeneReviewsSCV000041310.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
GeneReviewsnot providednot providednot providednot providednot providedConverted during submission to…Full description
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: May 19, 2019

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