Submissions for variant NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn) (rs45574331)

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)	RCV000113692	SCV000245106	benign	Breast-ovarian cancer, familial 2	2015-01-12	reviewed by expert panel	curation	Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.02642 (African), derived from 1000 genomes (2012-04-30).
Invitae	RCV000167851	SCV000073134	benign	Hereditary breast and ovarian cancer syndrome	2019-12-31	criteria provided, single submitter	clinical testing
Counsyl	RCV000113692	SCV000154081	benign	Breast-ovarian cancer, familial 2	2014-03-18	criteria provided, single submitter	literature only
Ambry Genetics	RCV000128918	SCV000172785	benign	Hereditary cancer-predisposing syndrome	2014-11-19	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000120355	SCV000202294	benign	not specified	2013-12-06	criteria provided, single submitter	clinical testing
Pathway Genomics	RCV000113692	SCV000223770	benign	Breast-ovarian cancer, familial 2	2014-10-30	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia	RCV000167851	SCV000257617	likely benign	Hereditary breast and ovarian cancer syndrome	2015-04-14	criteria provided, single submitter	clinical testing
Michigan Medical Genetics Laboratories,University of Michigan	RCV000113692	SCV000267805	benign	Breast-ovarian cancer, familial 2	2016-04-21	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario	RCV000768605	SCV000324839	benign	Breast and/or ovarian cancer	2016-01-26	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000383466	SCV000383754	likely benign	Fanconi anemia, complementation group D1	2018-01-19	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina	RCV000113692	SCV000383755	likely benign	Breast-ovarian cancer, familial 2	2018-01-19	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Integrated Genetics/Laboratory Corporation of America	RCV000167851	SCV000494340	benign	Hereditary breast and ovarian cancer syndrome	2014-04-15	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	RCV000120355	SCV000538462	benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 2.7% (262/9870) African chromosomes
Baylor Genetics	RCV000465613	SCV000541038	benign	Familial cancer of breast	2017-02-23	criteria provided, single submitter	clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency	RCV000120355	SCV000586971	benign	not specified	2017-04-18	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System	RCV000120355	SCV000592091	benign	not specified	2015-05-11	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	RCV001282541	SCV000602876	benign	none provided	2020-06-24	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics	RCV000514662	SCV000610790	benign	not provided	2017-05-30	criteria provided, single submitter	clinical testing
Color Health, Inc	RCV000128918	SCV000683843	benign	Hereditary cancer-predisposing syndrome	2015-03-05	criteria provided, single submitter	clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center	RCV000113692	SCV000744507	benign	Breast-ovarian cancer, familial 2	2015-09-21	criteria provided, single submitter	clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C.	RCV000128918	SCV000747801	likely benign	Hereditary cancer-predisposing syndrome	2018-01-16	criteria provided, single submitter	clinical testing
PreventionGenetics,PreventionGenetics	RCV000120355	SCV000805755	benign	not specified	2017-04-13	criteria provided, single submitter	clinical testing
ITMI	RCV000120355	SCV000084507	not provided	not specified	2013-09-19	no assertion provided	reference population
Breast Cancer Information Core (BIC) (BRCA2)	RCV000113692	SCV000147001	uncertain significance	Breast-ovarian cancer, familial 2	2002-05-29	no assertion criteria provided	clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic	RCV000514662	SCV000778701	benign	not provided	2017-12-23	no assertion criteria provided	clinical testing