ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4036G>A (p.Glu1346Lys) (rs80357407)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000195344 SCV000076427 likely benign Hereditary breast and ovarian cancer syndrome 2017-11-15 criteria provided, single submitter clinical testing
GeneDx RCV000048414 SCV000209965 likely benign not specified 2017-12-06 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.
Ambry Genetics RCV000164474 SCV000215119 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590201 SCV000699100 uncertain significance not provided 2016-03-18 criteria provided, single submitter clinical testing Variant summary: Variant affects a conserved nucleotide and result in a replacement of a medium size and acidic Glutamic acid (E) with a large size and basic Lysine (K). in silico tools predict the variant to be neutral. It was found in the large and broad cohorts of the ExAC project at an allele frequency of 0.009% which does not exceed the maximal expected allele frequency of a disease causing BRCA1 allele. The variant was observed in several HBOC spectrum patients, however without strong evidence for pathogenicity. Functional studies showed that the variant does not render cells to be sensitive to cisplatin, is able to support proliferation and does not impact splicing indicating neutrality. Furthermore, several clinical diagnostic laboratories classify variant as Benign/Likely Benign (without evidence to independently evaluate). Considering all evidence, the variant was classified as a VUS-possibly benign, until more information becomes available.
Color RCV000164474 SCV000910725 benign Hereditary cancer-predisposing syndrome 2016-02-10 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031142 SCV000053741 benign Breast-ovarian cancer, familial 1 2009-12-28 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031142 SCV000144939 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing

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