ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5458G>A (p.Gly1820Ser) (rs398122698)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222285 SCV000276995 likely benign Hereditary cancer-predisposing syndrome 2019-12-20 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification
Color Health, Inc RCV000222285 SCV000908980 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-15 criteria provided, single submitter clinical testing
Invitae RCV000814710 SCV000955130 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-06-15 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 1820 of the BRCA1 protein (p.Gly1820Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related disease. ClinVar contains an entry for this variant (Variation ID: 91650). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: Tolerated; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0. The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mendelics RCV000077167 SCV001140465 uncertain significance Breast-ovarian cancer, familial 1 2019-05-28 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077167 SCV000108964 uncertain significance Breast-ovarian cancer, familial 1 2012-08-30 no assertion criteria provided clinical testing
Brotman Baty Institute,University of Washington RCV000077167 SCV001243915 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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