ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) (rs34351119)

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Total submissions: 21
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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) RCV000119248 SCV000245033 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).
Counsyl RCV000119248 SCV000154084 benign Breast-ovarian cancer, familial 2 2014-03-17 criteria provided, single submitter literature only
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000152877 SCV000202289 benign not specified 2015-04-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162496 SCV000212883 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.
Invitae RCV000205532 SCV000262435 benign Hereditary breast and ovarian cancer syndrome 2020-12-08 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000119248 SCV000267781 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 RCV000768630 SCV000324838 benign Breast and/or ovarian cancer 2016-01-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000119248 SCV000383717 benign Breast-ovarian cancer, familial 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000278816 SCV000383718 benign Fanconi anemia, complementation group D1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000205532 SCV000494330 benign Hereditary breast and ovarian cancer syndrome 2014-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV000456283 SCV000541037 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000152877 SCV000586960 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282542 SCV000602875 benign none provided 2020-06-24 criteria provided, single submitter clinical testing
Color Health, Inc RCV000162496 SCV000683704 benign Hereditary cancer-predisposing syndrome 2015-04-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000152877 SCV000805722 benign not specified 2017-04-13 criteria provided, single submitter clinical testing
GeneDx RCV000656608 SCV001846864 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28324225)
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001353956 SCV000591966 benign Malignant tumor of breast no assertion criteria provided clinical testing The p.Glu1806Glu variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located near a splice junction. It has been reported in the literature in 7/7334 proband chromosomes of individuals with breast cancer; it was not found in any of the 148 control chromosomes tested (Borg_2010, Caux-Moncoutier_2011, Fackenthal_2005). It is listed in the dbSNP database as coming from a "clinical source" (ID#: rs34351119) with a global minor allele frequency (MAF) of 0.006, increasing the likelihood that this is a low frequency benign variant. The variant was also identified in the UMD (x18), Exome Server and the BOCs databases. In the UMD database, this variant was identified in one individual with a second pathogenic variant in the BRCA2 gene, c.2808_2811delACAA (p.Ala938ProfsX21), increasing the likelihood that the p.Ser1538Ser variant is a benign alteration. In summary, based on the above information, we would lean towards a more benign role for this variant. In summary, this variant is classified as Benign.
Mayo Clinic Laboratories, Mayo Clinic RCV000656608 SCV000778685 likely benign not provided 2017-12-22 no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology,Netherlands Cancer Institute RCV000152877 SCV001906003 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000152877 SCV001929851 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000152877 SCV001959690 benign not specified no assertion criteria provided clinical testing

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