Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000204879 | SCV000260390 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-12-16 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000582554 | SCV000688553 | likely benign | Hereditary cancer-predisposing syndrome | 2017-08-03 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000781035 | SCV000918804 | likely benign | not specified | 2023-02-06 | criteria provided, single submitter | clinical testing | Variant summary: BRCA1 c.5277+20G>A alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4e-06 in 251492 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.5277+20G>A in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as likely benign. |
Gene |
RCV001668368 | SCV001889887 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing |