ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5552T>G (p.Ile1851Ser) (rs80358776)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131533 SCV000186527 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034447 SCV000043214 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Breast Cancer Information Core (BIC) (BRCA2) RCV000031553 SCV000146632 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000131533 SCV000683711 likely benign Hereditary cancer-predisposing syndrome 2015-04-14 criteria provided, single submitter clinical testing
Fulgent Genetics RCV000031553 SCV000575750 uncertain significance Breast-ovarian cancer, familial 2 2016-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000044679 SCV000210614 likely benign not specified 2017-07-28 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 RCV000044679 SCV000918861 likely benign not specified 2018-01-25 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.5552T>G (p.Ile1851Ser) variant involves the alteration of a non-conserved nucleotide. 3/5 in silico tools predict a benign outcome for this variant. This variant was found in 14/264030 control chromosomes at a frequency of 0.000053, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). This variant was identified in one affected individual who also tested positive for a known pathogenic mutation in BRCA2 (BIC database), and in two cancer-free individuals older than age 70 (FLOSSIES database), suggesting a non-pathogenic role. In addition, multiple reputable databases/diagnostic centers classified the variant of interest as "Likely Benign/Benign". Taken together, the variant was classified as Likely Benign.
Invitae RCV000195371 SCV000072692 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-05 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031553 SCV000054158 benign Breast-ovarian cancer, familial 2 2008-12-10 no assertion criteria provided clinical testing

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