ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1361G>A (p.Ser454Asn) (rs80357181)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000047441 SCV000075454 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-06-11 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 454 of the BRCA1 protein (p.Ser454Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine. This variant is present in population databases (rs80357181, ExAC 0.01%). This variant has not been reported in the literature in individuals with BRCA1-related disease. ClinVar contains an entry for this variant (Variation ID: 54220). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine 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.
Counsyl RCV000111596 SCV000489361 uncertain significance Breast-ovarian cancer, familial 1 2016-11-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000510012 SCV000608220 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-29 criteria provided, single submitter clinical testing Insufficient evidence
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985367 SCV001133484 uncertain significance not provided 2019-06-03 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111596 SCV000144067 uncertain significance Breast-ovarian cancer, familial 1 2001-10-29 no assertion criteria provided clinical testing

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