ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs) (rs276174803)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000122897 SCV000166155 likely benign Hereditary breast and ovarian cancer syndrome 2016-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000129586 SCV000184369 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000112839 SCV000267835 benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000122897 SCV000324858 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-02-02 criteria provided, single submitter clinical testing Interpretation was last updated within 1 year from 2/2/2016 11:04 AM
Integrated Genetics/Laboratory Corporation of America RCV000590484 SCV000694492 benign not provided 2016-05-03 criteria provided, single submitter clinical testing Variant summary: The c. 10095delinsGAATTATATCT (p.Ser3366Asnfs) variant in BRCA2 has been reported in the literature to be found in prostate, breast and ovarian cancer patients, without strong evidence for causality. The variant was identified in at least 1 healthy individual from the literature, but not amongst the 1000G, ExAC or and ESP cohort. Multiple reputable clinical labs/databases have classified the variant as benign/likely benign. The variant is located 51 amino acids from the end of the protein and 40 amino acids downstream from the c.9976A>T (p.Lys3326X) variant, which was proven to be non pathogenic and It is generally accepted that truncations downstream of Lys3326 are non-pathogenic. Additionally, the variant was found to co-occur with several pathogenic BRCA1/2 variants via UMD: BRCA2 c.17_18delAA (p.Lys6Argfs), BRCA1 c.2959A>T (p.Lys987X), BRCA1 c.1171G>T (p.Glu391X). The variant was also shown to have no effect on splicing (Houdayer_2012). The variant of interest shows strong evidence for neutrality, and has been classified as a benign variant.
PreventionGenetics,PreventionGenetics RCV000590484 SCV000805640 uncertain significance not provided 2017-09-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000590484 SCV000888968 benign not provided 2019-04-04 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769707 SCV000901126 uncertain significance Breast and/or ovarian cancer 2017-10-05 criteria provided, single submitter clinical testing
Color RCV000129586 SCV001355389 likely benign Hereditary cancer-predisposing syndrome 2015-09-22 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000112839 SCV000145751 benign Breast-ovarian cancer, familial 2 2010-12-17 no assertion criteria provided clinical testing
Pathway Genomics RCV000112839 SCV000187735 likely benign Breast-ovarian cancer, familial 2 2014-07-24 no assertion criteria provided literature only
Dr. Peter K. Rogan Lab,Western University RCV000122897 SCV000262591 uncertain significance Hereditary breast and ovarian cancer syndrome 2015-12-22 no assertion criteria provided research Sequenced patient with familial breast cancer
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496401 SCV000588019 benign not specified 2014-01-31 no assertion criteria provided research

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