Click here to see the new Variation Report design!

NM_004996.3(ABCC1):c.2292+288G>A

Variation ID: Help
126860
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Uncertain significance
Last evaluated:
Feb 1, 2014
Number of submission(s):
1
Condition(s):
Familial cancer of breast[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_004996.3(ABCC1):c.2292+288G>A

Allele ID:
132374
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.11
Genomic location:
  • Chr16: 16083830 (on Assembly GRCh38)
  • Chr16: 16177687 (on Assembly GRCh37)
HGVS:
  • NG_028268.1:g.139254G>A
  • NM_004996.3:c.2292+288G>A
  • NC_000016.10:g.16083830G>A (GRCh38)
  • NC_000016.9:g.16177687G>A (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs11075295
Molecular consequence:
NM_004996.3:c.2292+288G>A: intron variant [Sequence Ontology SO:0001627]
Allele frequency:
  • 1000 Genomes Project 0.19629 (G)
  • 1000 Genomes Project 0.80371
  • The Genome Aggregation Database (gnomAD) 0.84596

1 Affected gene

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
Uncertain significance
(Feb 1, 2014)
no assertion criteria providedresearchinherited
    Research Lab, National Institute of Public Health - Role of ABCC1 genetic variability in breast cancerSCV000143792.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Research Lab, National Institute of Public Healthnot provided162inheritedCaucasianCzech Republicnot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Mar 31, 2019

    Support Center