ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9658C>T (p.Pro3220Ser)

dbSNP: rs80359236
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284461 SCV001470269 uncertain significance not provided 2020-03-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001363805 SCV001559932 uncertain significance Hereditary breast ovarian cancer syndrome 2020-07-15 criteria provided, single submitter clinical testing 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. 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. This variant has been reported in individuals in the Breast Cancer Information Core database (PMID: 10923033). ClinVar contains an entry for this variant (Variation ID: 52887). This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 3220 of the BRCA2 protein (p.Pro3220Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine.
All of Us Research Program, National Institutes of Health RCV004803946 SCV004834504 uncertain significance BRCA2-related cancer predisposition 2024-03-05 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000114149 SCV000147694 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 no assertion criteria provided clinical testing

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