Submissions for variant NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr)

gnomAD frequency: 0.00074  dbSNP: rs28897708

Total submissions: 33

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000083086	SCV001161525	benign	Breast-ovarian cancer, familial, susceptibility to, 2	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 = 2.83E-31
Invitae	RCV000043820	SCV000071833	benign	Hereditary breast ovarian cancer syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Counsyl	RCV000083086	SCV000154070	likely benign	Breast-ovarian cancer, familial, susceptibility to, 2	2014-02-17	criteria provided, single submitter	literature only
Ambry Genetics	RCV000128939	SCV000172813	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: seen in unaffected individuals, 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.
CSER _CC_NCGL, University of Washington	RCV000148429	SCV000190128	likely benign	Breast neoplasm	2014-06-01	criteria provided, single submitter	research
GeneDx	RCV000034430	SCV000210561	likely benign	not provided	2020-10-08	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 16847550, 20104584, 22505045, 11241844, 25569433, 23231788, 26625824, 24916970, 15955690, 16826315, 19471317, 20127978, 18724707, 22703879, 16760289, 20694749, 25637381, 26306726, 24489791, 18559594, 15983021, 24055113, 21952622, 21702907, 21520273, 24082139, 27153395, 26332594, 12474142, 27621404, 28283652, 30254663)
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000768619	SCV000219301	likely benign	Breast and/or ovarian cancer	2023-05-05	criteria provided, single submitter	clinical testing
Michigan Medical Genetics Laboratories, University of Michigan	RCV000083086	SCV000267746	likely benign	Breast-ovarian cancer, familial, susceptibility to, 2	2016-04-21	criteria provided, single submitter	clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	RCV000043820	SCV000267842	likely benign	Hereditary breast ovarian cancer syndrome	2016-04-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000168548	SCV000301757	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000083086	SCV000383633	likely benign	Breast-ovarian cancer, familial, susceptibility to, 2	2018-05-01	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 Laboratory Services, Illumina	RCV000405614	SCV000383634	likely benign	Fanconi anemia complementation group D1	2018-05-01	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000043820	SCV000494366	benign	Hereditary breast ovarian cancer syndrome	2014-10-20	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000168548	SCV000538494	uncertain significance	not specified	2016-06-16	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: ClinVar: 8 labs classify as B/LB
Genetic Services Laboratory, University of Chicago	RCV000168548	SCV000593703	likely benign	not specified	2017-02-22	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000034430	SCV000602852	likely benign	not provided	2023-09-26	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000128939	SCV000683428	likely benign	Hereditary cancer-predisposing syndrome	2015-02-20	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000083086	SCV000743261	benign	Breast-ovarian cancer, familial, susceptibility to, 2	2014-10-09	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000083086	SCV000744412	benign	Breast-ovarian cancer, familial, susceptibility to, 2	2015-09-21	criteria provided, single submitter	clinical testing
Mendelics	RCV000083086	SCV001139002	likely benign	Breast-ovarian cancer, familial, susceptibility to, 2	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000034430	SCV001247639	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	BRCA2: BP4
Sema4, Sema4	RCV000128939	SCV002533238	benign	Hereditary cancer-predisposing syndrome	2020-08-06	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000168548	SCV002550280	benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000083086	SCV004846927	likely benign	Breast-ovarian cancer, familial, susceptibility to, 2	2024-02-05	criteria provided, single submitter	clinical testing
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000034430	SCV000043197	probably not pathogenic	not provided	2012-07-13	no assertion criteria provided	research	Converted during submission to Likely benign.
Sharing Clinical Reports Project (SCRP)	RCV000083086	SCV000115160	benign	Breast-ovarian cancer, familial, susceptibility to, 2	2012-05-01	no assertion criteria provided	clinical testing
Breast Cancer Information Core (BIC) (BRCA2)	RCV000083086	SCV000145881	benign	Breast-ovarian cancer, familial, susceptibility to, 2	2002-05-29	no assertion criteria provided	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000168548	SCV000591750	benign	not specified		no assertion criteria provided	clinical testing	Borg_2010 Capanu_2011 Cavallone_2010 Edwards_2001 Edwards_2003 Giannini_2006 Haffty_2006 Peixoto_2006 Soegaard_2008 Morgan_2010
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000083086	SCV000733231	benign	Breast-ovarian cancer, familial, susceptibility to, 2		no assertion criteria provided	clinical testing
True Health Diagnostics	RCV000128939	SCV000886671	likely benign	Hereditary cancer-predisposing syndrome	2018-11-09	no assertion criteria provided	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000168548	SCV001905752	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000168548	SCV001951491	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000034430	SCV002036681	likely benign	not provided		no assertion criteria provided	clinical testing