ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6143A>T (p.Asn2048Ile) (rs80358853)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000160232 SCV000602831 likely benign not specified 2016-11-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000163009 SCV000213497 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113536 SCV000146778 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000163009 SCV000910769 benign Hereditary cancer-predisposing syndrome 2016-02-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000589722 SCV000859742 uncertain significance not provided 2018-03-08 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113536 SCV000244463 benign Breast-ovarian cancer, familial 2 2015-08-10 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 = 0.0000319
GeneDx RCV000160232 SCV000210624 likely benign not specified 2017-10-27 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.
Integrated Genetics/Laboratory Corporation of America RCV000589722 SCV000694944 likely benign not provided 2016-04-01 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.6143A>T variant affects a non-conserved nucleotide, resulting in an amino acid change from a medium size and polar Asparagine (N) to a medium size and hydrophobic Isoleucine (I). 4/5 in-silico tools predict this variant to be damaging; however they are not definite. This variant was not found in approximately 120890 control chromosomes from the broad and large populations of ExAC; however it could still be a rare polymorphism. In BIC this variant has been reported to co-occur with pathogenic BRCA1/2 variants in three individuals undergoing BRCA1/2 screening, namely BRCA2 c.7758G>A (p.Trp2586Ter), BRCA2 c.6373_6374insA (p.Thr2125fs), and BRCA1 c.5503C>T (p.Arg1835Ter), suggesting that this variant is unlikely to be pathogenic. Multifactorial probability models also indicate that this variant is neutral (Easton_2007 and Lindor_2012). In addition, multiple clinical laboratories/reputable databases have classified this variant as benign/likely benign. Taken together, the variant has been classified as likely benign until additional information becomes available (i.e. functional studies and/or co-segregation data).
Invitae RCV000206099 SCV000260760 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-28 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000589722 SCV000887867 likely benign not provided 2018-01-05 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.