NM_002555.5(SLC22A18):c.864_865insNC_000011.10:g.2919738_2919848

Variation ID: Help
6976
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Mar 31, 1998
Number of submission(s):
1
Condition(s):
  • Breast cancer, somatic
  • Breast adenocarcinoma [MedGen]
See supporting ClinVar records

Allele(s) Help

NM_002555.5(SLC22A18):c.864_865insNC_000011.10:g.2919738_2919848

Allele ID:
22015
Variant type:
Insertion
Cytogenetic location:
11p15.5
HGVS:
NM_002555.5:c.864_865insNC_000011.10:g.2919738_2919848
Links:
OMIM: 602631.0001

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Assertion and evidence details

Somatic

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study name
(Last submitted)
Submission accession
Pathogenic
(Mar 31, 1998)
no assertion criteria providedliterature only
  • Breast adenocarcinoma[MedGen]
somaticOMIM

(Dec 30, 2010)

SCV000027590.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedsomaticnot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
OMIMsomaticnot providedBreast adenocarcinoma (not provided)not providednot providedIn the breast cancer (114480) cell line BT549, Schwienbacher et al. (1998) identified an insertion that introduced a stop codon in the BWR1A gene. Theā€¦Full description

Last Updated: Dec 5, 2015