ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3861_3863TAA[1] (p.Asn1288del) (rs276174837)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000509900 SCV000608016 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000113232 SCV000146319 uncertain significance Breast-ovarian cancer, familial 2 2010-12-17 no assertion criteria provided clinical testing
Color RCV000509900 SCV000903466 likely benign Hereditary cancer-predisposing syndrome 2016-02-17 criteria provided, single submitter clinical testing
Department of Pathology and Molecular Medicine,Queen's University RCV000496508 SCV000588091 uncertain significance not specified 2017-04-20 criteria provided, single submitter clinical testing
GeneKor MSA RCV000509900 SCV000821937 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000496508 SCV000916920 uncertain significance not specified 2018-02-28 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.3864_3866delTAA (p.Asn1288del) results in an in-frame deletion. The variant was absent in 90062 control chromosomes in ExAC and publications. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. The variant, c.3864_3866delTAA, has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer (Levanat_2012, Stegel_2011). These reports do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Multiple ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant as "uncertain significance." Based on the evidence outlined above, the variant was classified as uncertain significance.
Invitae RCV000210490 SCV000266792 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-12-22 criteria provided, single submitter clinical testing This variant, c.3864_3866delTAA, results in the deletion of 1 amino acid of the BRCA2 protein (p.Asn1288del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual with a family history of breast and/or ovarian cancer (PMID: 22366370). ClinVar contains an entry for this variant (Variation ID: 126027). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. 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.
Mendelics RCV000210490 SCV000838791 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758887 SCV000887801 uncertain significance not provided 2017-12-18 criteria provided, single submitter clinical testing

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