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NM_002443.3(MSMB):c.-89T=

Variation ID: Help
14244
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
risk factor
Last evaluated:
Oct 18, 2018
Number of submission(s):
1
Condition(s):
Prostate cancer, hereditary, 13[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_002443.3(MSMB):c.-89T=

Allele ID:
29283
Variant type:
single nucleotide variant
Cytogenetic location:
10q11.2
Genomic location:
  • Chr10: 46046326 (on Assembly GRCh38)
  • Chr10: 51549496 (on Assembly GRCh37)
Other names:
  • -2C-T (rs10993994)
HGVS:
  • NG_011551.1:g.4944T=
  • NM_002443.3:c.-89T=
  • NC_000010.11:g.46046326A= (GRCh38)
  • NC_000010.10:g.51549496T= (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs10993994
Molecular consequence:
NM_002443.3:c.-89T=: 2KB upstream variant [Sequence Ontology SO:0001636]
Functional consequence:
effect on promoter activity [PubMedVariation Ontology: 0153]
Allele frequency:
  • 1000 Genomes Project 0.48263 (G)
  • 1000 Genomes Project 0.51737
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.47087
  • The Genome Aggregation Database (gnomAD) 0.44428
  • Trans-Omics for Precision Medicine (TOPMed) 0.46912

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
risk factor
(Oct 18, 2018)
no assertion criteria providedliterature onlygermlineOMIMSCV000035571.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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