ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.232C>T (p.Pro78Ser) (rs398122745)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162666 SCV000213113 uncertain significance Hereditary cancer-predisposing syndrome 2014-11-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Color RCV000162666 SCV000683479 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-29 criteria provided, single submitter clinical testing
Invitae RCV000637740 SCV000759213 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-03-07 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 78 of the BRCA2 protein (p.Pro78Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline 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 BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 91774). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but 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.
Sharing Clinical Reports Project (SCRP) RCV000077682 SCV000109485 likely benign Breast-ovarian cancer, familial 2 2012-05-30 no assertion criteria provided clinical testing
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000761027 SCV000890942 uncertain significance T Lymphoblastic Leukemia/Lymphoma 2016-03-03 no assertion criteria provided clinical testing

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