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

dbSNP: rs80358006

Total submissions: 25

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, susceptibility to, 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, susceptibility to, 1	2014-11-03	criteria provided, single submitter	clinical testing
Counsyl	RCV000031283	SCV000220259	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2014-04-18	criteria provided, single submitter	literature only
Invitae	RCV001080630	SCV000252825	benign	Hereditary breast ovarian cancer syndrome	2024-02-01	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	2021-09-20	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 Diagnostics, LLC DBA Color Health	RCV000580413	SCV000683365	benign	Hereditary cancer-predisposing syndrome	2015-03-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000679704	SCV000806985	likely benign	not provided	2017-06-01	criteria provided, single submitter	clinical testing
Mendelics	RCV000031283	SCV001140650	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2019-05-28	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000123875	SCV002760949	benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Sharing Clinical Reports Project (SCRP)	RCV000031283	SCV000053888	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2006-02-23	no assertion criteria provided	clinical testing
Breast Cancer Information Core (BIC) (BRCA1)	RCV000031283	SCV000144222	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 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, susceptibility to, 1		no assertion criteria provided	clinical testing
Brotman Baty Institute, University of Washington	RCV000031283	SCV001237809	not provided	Breast-ovarian cancer, familial, susceptibility to, 1		no assertion provided	in vitro
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000123875	SCV001906057	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000679704	SCV001926382	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000679704	SCV001955903	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000123875	SCV001971102	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000123875	SCV002036498	benign	not specified		no assertion criteria provided	clinical testing
BRCAlab, Lund University	RCV000031283	SCV004244199	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2020-03-02	no assertion criteria provided	clinical testing