ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5277+20G>A

gnomAD frequency: 0.00002  dbSNP: rs766950602
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Total submissions: 4
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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, LLC DBA Color Health 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, LabCorp 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.
GeneDx RCV001668368 SCV001889887 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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