ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.215A>G (p.Asn72Ser)

gnomAD frequency: 0.00001  dbSNP: rs276174818
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000043952 SCV000071965 likely benign Hereditary breast ovarian cancer syndrome 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV000212202 SCV000210433 uncertain significance not provided 2023-03-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Also known as 443A>G; This variant is associated with the following publications: (PMID: 10923033, 18627636, 28222693, 22476429, 28873162, 30287823, 31925297, 32377563, 30702160, 30883759, 32467295, 31837001, 31853058)
Counsyl RCV000113284 SCV000488136 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2016-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000562408 SCV000661174 likely benign Hereditary cancer-predisposing syndrome 2021-04-14 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Color Diagnostics, LLC DBA Color Health RCV000562408 SCV000911190 likely benign Hereditary cancer-predisposing syndrome 2015-12-02 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000212202 SCV001715035 uncertain significance not provided 2020-11-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001778687 SCV002014954 uncertain significance not specified 2021-10-18 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.215A>G (p.Ser215Arg) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4e-05 in 251386 control chromosomes (gnomAD). This frequency is not significantly higher than expected for a pathogenic variant in BRCA2 causing Hereditary Breast And Ovarian Cancer Syndrome (4e-05 vs 0.00075), allowing no conclusion about variant significance. c.215A>G has been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer (example, Thirthagiri_2008, Lu_2012, Lai_2017) and unaffected healthy control individuals (example Lai_2017, Momozawa_2018, and Guo_2019) . These reports do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Seven clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Five laboratories have classified the variant as unknown significance and two laboratories classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS.
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153333 SCV003843529 benign Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113284 SCV000146391 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2010-09-18 no assertion criteria provided clinical testing
3DMed Clinical Laboratory Inc RCV000677865 SCV000804026 uncertain significance Infiltrating duct carcinoma of breast 2018-05-21 no assertion criteria provided clinical testing
Center for Precision Medicine, Meizhou People's Hospital RCV002250508 SCV002520923 uncertain significance Familial cancer of breast no assertion criteria provided literature only

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