biostudies-literatureUnknown5(6)Byrjalsen ABRCA1, c.4096+3A>G was identified in a consanguineous Danish family with several cases of breast/ovarian cancer. In silico analysis and splicing assays indicated that the variant caused aberrant splicing. However, based on segregation data and the finding of a healthy homozygous carrier, we classify the BRCA1 c.4096+3A>G variant as likely benign.Clinical case reports876-879https://www.ebi.ac.uk/biostudies/studies/S-EPMC5458035biostudies-literatureClassification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier.PMC5458035Steffensen AYByrjalsen AWadt KGerdes AMHansen TVOfalseClassification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier.BRCA1, c.4096+3A>G was identified in a consanguineous Danish family with several cases of breast/ovarian cancer. In silico analysis and splicing assays indicated that the variant caused aberrant splicing. However, based on segregation data and the finding of a healthy homozygous carrier, we classify the BRCA1 c.4096+3A>G variant as likely benign.2017-01-01T00:00:00Z2017 Jun2020-11-09T08:38:20Z2019-03-27T02:46:43ZS-EPMC54580352858883010.1002/ccr3.944