ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.10220A>G (p.Asn3407Ser) (rs80358401)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129602 SCV000184387 likely benign Hereditary cancer-predisposing syndrome 2016-10-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other data supporting benign classification
Breast Cancer Information Core (BIC) (BRCA2) RCV000112850 SCV000145767 uncertain significance Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Color RCV000129602 SCV000906968 likely benign Hereditary cancer-predisposing syndrome 2018-08-30 criteria provided, single submitter clinical testing
Counsyl RCV000112850 SCV000488149 uncertain significance Breast-ovarian cancer, familial 2 2016-03-03 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000212294 SCV000592317 uncertain significance not specified 2014-10-17 criteria provided, single submitter clinical testing
GeneDx RCV000212294 SCV000210700 likely benign not specified 2015-03-27 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 RCV000589028 SCV000694500 uncertain significance not provided 2017-01-23 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.10220A>G (p.Asn3407Ser) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 1/120226 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). Multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign as well as multiple labs classifying the variant as a VUS, without evidence to independently evaluate. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

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