ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8647C>T (p.Pro2883Ser) (rs80359122)

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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 RCV000567301 SCV000668605 uncertain significance Hereditary cancer-predisposing syndrome 2017-04-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000031758 SCV000147428 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Color RCV000567301 SCV000689143 likely benign Hereditary cancer-predisposing syndrome 2017-05-17 criteria provided, single submitter clinical testing
GeneDx RCV000417546 SCV000512393 likely benign not specified 2017-09-11 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 RCV000586014 SCV000695168 uncertain significance not provided 2017-08-21 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.8647C>T (p.Pro2883Ser) variant involves the alteration of a non-conserved nucleotide. 2/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). 5/5 splice prediction tools predict no significant impact on normal splicing. Though RESCUE-ESE (an in silico tool) predicts that the variant may affect 1 exonic splicing regulatory element, an in vitro functional study indicated that the variant of interest had no impact on splicing (Acedo_2015). This variant was found in 1/120114 control chromosomes at a frequency of 0.0000083, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). Additionally, BIC cites the variant in 3 individuals that carried another pathogenic BRCA1 variant, 2 - exon13ins6kb and 1 - c.2722G>T (p.Glu908X), suggesting the variant may have a benign effect. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000045590 SCV000073603 likely benign Hereditary breast and ovarian cancer syndrome 2016-10-16 criteria provided, single submitter clinical testing
Mendelics RCV000045590 SCV000838882 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031758 SCV000054366 likely benign Breast-ovarian cancer, familial 2 2013-08-19 no assertion criteria provided clinical testing

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