ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.81-14C>T (rs80358006)

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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031283 SCV001161599 benign Breast-ovarian cancer, familial 1 2019-06-18 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 1.76E-08
GeneDx RCV000123875 SCV000167220 benign not specified 2014-01-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Michigan Medical Genetics Laboratories,University of Michigan RCV000031283 SCV000195876 benign Breast-ovarian cancer, familial 1 2014-11-03 criteria provided, single submitter clinical testing
Counsyl RCV000031283 SCV000220259 benign Breast-ovarian cancer, familial 1 2014-04-18 criteria provided, single submitter literature only
Invitae RCV001080630 SCV000252825 benign Hereditary breast and ovarian cancer syndrome 2020-11-27 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768581 SCV000324807 likely benign Breast and/or ovarian cancer 2016-01-26 criteria provided, single submitter clinical testing
Baylor Genetics RCV000463254 SCV000540989 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000123875 SCV000586863 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Department of Pathology and Molecular Medicine,Queen's University RCV000123875 SCV000588025 likely benign not specified 2017-04-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000123875 SCV000602683 benign not specified 2016-09-25 criteria provided, single submitter clinical testing
Color Health, Inc RCV000580413 SCV000683365 benign Hereditary cancer-predisposing syndrome 2015-03-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679704 SCV000806985 likely benign not provided 2017-06-01 criteria provided, single submitter clinical testing
Mendelics RCV000031283 SCV001140650 benign Breast-ovarian cancer, familial 1 2019-05-28 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031283 SCV000053888 benign Breast-ovarian cancer, familial 1 2006-02-23 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031283 SCV000144222 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000123875 SCV000591235 benign not specified no assertion criteria provided clinical testing The c.81-14C>T was reported in the EPS project in 8 of 8600 (0.0009) in a European cohort and 1 of 4406 African American chromosomes, increasing the likelihood this is rare variant of unlikely clinical significance. Claes et al (2003) demonstrated by RT-PCR that there was no aberrant splicing increasing the likelihood this variant does not have clinical significance. dbSNPID rs80358006. This variant was identified in the UMD database 36x and it co-occurred with a second pathogenic variant 3 times. Judkins (2005) also report this variant as co-occurring with a second pathogenic variant, increasing the likelihood this variant does not have clinical significant. Myriad genetics classifies this variant as a polymorphsim (Personal communication). In summary, based on the above information, this variant is classified as benign.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000031283 SCV000733683 benign Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing
Brotman Baty Institute,University of Washington RCV000031283 SCV001237809 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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