ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn) (rs34309943)

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Total submissions: 19
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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) RCV000031609 SCV000244464 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 = 0.00000313
Invitae RCV000167838 SCV000072887 benign Hereditary breast and ovarian cancer syndrome 2020-11-26 criteria provided, single submitter clinical testing
GeneDx RCV000120334 SCV000167378 benign not specified 2013-11-04 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000120334 SCV000202292 benign not specified 2014-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162620 SCV000213053 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.
Illumina Clinical Services Laboratory,Illumina RCV000167838 SCV000383732 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324816 SCV000383733 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000167838 SCV000494336 benign Hereditary breast and ovarian cancer syndrome 2014-04-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000120334 SCV000538461 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: ClinVar: Ben by expert panel
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282998 SCV000602751 benign none provided 2019-12-13 criteria provided, single submitter clinical testing
Color Health, Inc RCV000162620 SCV000683760 benign Hereditary cancer-predisposing syndrome 2015-03-10 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000031609 SCV000744483 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000120334 SCV000805735 benign not specified 2017-11-10 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031609 SCV000054216 benign Breast-ovarian cancer, familial 2 2011-04-20 no assertion criteria provided clinical testing
ITMI RCV000120334 SCV000084486 not provided not specified 2013-09-19 no assertion provided reference population
Breast Cancer Information Core (BIC) (BRCA2) RCV000031609 SCV000146797 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000120334 SCV000587832 benign not specified 2014-01-31 no assertion criteria provided research
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001353448 SCV000592036 benign Malignant tumor of breast no assertion criteria provided clinical testing The p.His2074Asn variant has been identified in one out of 190 control chromosomes (frequency 0.005), and also listed 39X in the BI(C database as a variant of unknown clinical significance (Wagner 1999). It is also listed in dbSNP database coming from a “clinical channel” (ID#: rs34309943) with a “global minor allele frequency of 0.001 (1000 genomes), therefore increasing the likelihood that this variant is benign. In the Exome Variant Server, this variant was also found in 45 times out of 12955 chromosomes (0 out of 8594 European, and 45 out of 4361 African alleles) further suggesting that the variant is benign. The p.His2074 residue is not conserved in mammals or in other species, and the computational analyses (PolyPhen, SIFT, AlignGVGD) do not suggest a high likelihood of impact to the protein. In summary, based on above information this variant is classified as Benign.
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735582 SCV000863720 benign Breast and/or ovarian cancer no assertion criteria provided clinical testing

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