ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4436G>C (p.Ser1479Thr) (rs80358678)

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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 RCV000131309 SCV000186281 uncertain significance Hereditary cancer-predisposing syndrome 2017-10-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000113303 SCV000146422 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Color RCV000131309 SCV000903291 likely benign Hereditary cancer-predisposing syndrome 2017-06-21 criteria provided, single submitter clinical testing
Counsyl RCV000113303 SCV000489434 uncertain significance Breast-ovarian cancer, familial 2 2016-10-05 criteria provided, single submitter clinical testing
GeneDx RCV000044414 SCV000210335 likely benign not specified 2018-01-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000586286 SCV000694773 uncertain significance not provided 2017-06-16 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.4436G>C (p.Ser1479Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. 4/4 in silico tools predict a benign outcome for this variant (SNPsandGO not available). The variant of interest is located outside of any known functional domain or repeat, however the functional impact of this missense change is yet to be studied. The variant of interest has been found in a large, broad control population, ExAC in 1/119678 control chromosomes at a frequency of 0.0000084, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). The variant was identified in patients with BrC without strong evidence for causality. The variant was reported in 2 individuals with known pathogenic variants, c.3911delC in BRCA2 and c.3710delT in BRCA1 genes (BIC; samples #34619 and 38367, respectively). Multiple clinical diagnostic laboratories/reputable databases classified this variant as uncertain significance/likely benign. Taken together, the variant was classified as VUS-Possibly Benign until more data becomes available.
Invitae RCV000195369 SCV000072427 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-27 criteria provided, single submitter clinical testing
Pathway Genomics RCV000113303 SCV000223758 uncertain significance Breast-ovarian cancer, familial 2 2014-10-30 no assertion criteria provided clinical testing

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