ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.938C>T (p.Ser313Phe) (rs397507428)

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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 RCV000129312 SCV000184074 uncertain significance Hereditary cancer-predisposing syndrome 2015-12-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000129312 SCV000292221 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Counsyl RCV000031821 SCV000786430 uncertain significance Breast-ovarian cancer, familial 2 2018-05-01 criteria provided, single submitter clinical testing
Invitae RCV000467684 SCV000549496 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-11-25 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 313 of the BRCA2 protein (p.Ser313Phe). The serine residue is weakly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs397507428, ExAC 0.01%). This variant has been observed in an individual with prostrate cancer (PMID: 29368341). ClinVar contains an entry for this variant (Variation ID: 38238). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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) RCV000031821 SCV000054429 uncertain significance Breast-ovarian cancer, familial 2 2011-01-19 no assertion criteria provided clinical testing

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