ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6125A>C (p.Gln2042Pro) (rs80358852)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131951 SCV000187008 benign Hereditary cancer-predisposing syndrome 2016-07-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Breast Cancer Information Core (BIC) (BRCA2) RCV000031599 SCV000146773 uncertain significance Breast-ovarian cancer, familial 2 2000-06-12 no assertion criteria provided clinical testing
Counsyl RCV000031599 SCV000488344 uncertain significance Breast-ovarian cancer, familial 2 2016-03-02 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000203091 SCV000257613 uncertain significance Hereditary breast and ovarian cancer syndrome 2015-06-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587844 SCV000694940 uncertain significance not provided 2016-01-22 criteria provided, single submitter clinical testing
Invitae RCV000203091 SCV000072864 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-12-08 criteria provided, single submitter clinical testing This sequence change replaces glutamine with proline at codon 2042 of the BRCA2 protein (p.Gln2042Pro). The glutamine residue is weakly conserved and there is a moderate physicochemical difference between glutamine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 38018). 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 proline 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 RCV000203091 SCV000838833 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031599 SCV000054206 uncertain significance Breast-ovarian cancer, familial 2 2013-07-25 no assertion criteria provided clinical testing

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