Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000112385 | SCV000244368 | benign | Breast-ovarian cancer, familial 1 | 2015-08-10 | reviewed by expert panel | curation | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.000102 |
Invitae | RCV000167813 | SCV000076645 | benign | Hereditary breast and ovarian cancer syndrome | 2017-12-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000120262 | SCV000209974 | benign | not specified | 2017-06-27 | 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. |
Ambry Genetics | RCV000162687 | SCV000213141 | benign | Hereditary cancer-predisposing syndrome | 2014-11-18 | criteria provided, single submitter | clinical testing | |
Color | RCV000162687 | SCV000683208 | likely benign | Hereditary cancer-predisposing syndrome | 2015-05-05 | criteria provided, single submitter | clinical testing | |
Integrated Genetics/Laboratory Corporation of America | RCV000587835 | SCV000699165 | benign | not provided | 2016-03-17 | criteria provided, single submitter | clinical testing | Variant summary: Variant affects a non-conserved nucleotide and results in a replacement of a medium size and hydrophobic Leucine (L) with a medium size and hydrophobic Proline (P). 3/4 in silico tools predict the variant to be neutral. It was observed predominantly in the African subcohorts of the ExAC project at an allele frequency of 0.13% which slightly exceeds the maximal expected allele frequency of a disease causing BRCA1 allele (0.1%). It was reported in several HBOC spectrum patients however without strong evidence for pathogenicity. The variant was observed to co-occur with pathogenic/possibly pathogenic BRCA1 and BRCA2 variants such as BRCA1 p.C64Y; p.Lys1290Ter, p.Val738fs, c.824ins10 and BRCA2 p.Lys1872_Ile1874fs indicating neutrality. A benign impact is also supported by computational analysis that integrated multiple forms of genetic evidence for the variant of interest (Lindor_2012). Carvalho_2007 showed decreased transcriptional activity in yeast and mammalian cells; however, Hayes_2000 showed transcription activation of the variant is comparable to wild-type BRCA1 in yeast. In addition, multiple literature and reputable databases/clinical laboratories classify this variant as likely benign or benign. Considering all evidence, the variant was classified as Benign. |
Prevention |
RCV000587835 | SCV000806959 | likely benign | not provided | 2017-07-11 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000120262 | SCV000084414 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Breast Cancer Information Core |
RCV000112385 | SCV000145161 | benign | Breast-ovarian cancer, familial 1 | 2002-05-29 | no assertion criteria provided | clinical testing | |
CSER_CC_NCGL; University of Washington Medical Center | RCV000148377 | SCV000190075 | likely benign | Neoplasm of the breast | 2014-06-01 | no assertion criteria provided | research | |
True Health Diagnostics | RCV000162687 | SCV000787905 | likely benign | Hereditary cancer-predisposing syndrome | 2018-01-03 | no assertion criteria provided | clinical testing |