ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3569G>A (p.Arg1190Gln) (rs80358605)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082730 SCV000072237 likely benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130051 SCV000184878 likely benign Hereditary cancer-predisposing syndrome 2017-12-04 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other strong data supporting benign classification
Counsyl RCV000031428 SCV000488036 uncertain significance Breast-ovarian cancer, familial 2 2015-12-22 criteria provided, single submitter clinical testing
GeneDx RCV000422219 SCV000512356 likely benign not specified 2017-08-17 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 RCV000587455 SCV000694705 uncertain significance not provided 2016-03-25 criteria provided, single submitter clinical testing Variant Summary: The c.3569G>A variant in BRCA2 gene is a missense change that alters a non-conserved and 4/5 in silico tools predict benign outcome. The variant is found in the large control population dataset of ExAC at a frequency of 0.006%, exclusively in individuals of South Asian descent (0.04%). This frequency does not exceed the maximal expected frequency of a pathogenic allele (0.075%), however the variant may be a functional ethnic specific polymorphism. To our knowledge, variant carrier patients were not reported in the literature and studies assessing the functional impact the variant may have on the BRCA2 protein have not been published either at the time of scoring. Reputable databases/diagnostic centers listed the variant of interest with a classification of Likely Benign. Due to the absence of clinical data and functional studies, the variant was classified as a variant of uncertain significance until more information becomes available.
Color RCV000130051 SCV000903953 likely benign Hereditary cancer-predisposing syndrome 2017-06-19 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031428 SCV000054033 likely benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031428 SCV000146258 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing

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