ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.135-?_441+?dup

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204189 SCV000260421 likely pathogenic Hereditary breast ovarian cancer syndrome 2015-09-02 criteria provided, single submitter clinical testing This sequence change is a gross duplication of the genomic region encompassing exons 4-6 of the BRCA1 gene. While the exact position of the duplicated exons cannot be determined from this data, the most likely explanation is that it occurs in tandem and results in an absent or disrupted protein product. Duplication of exons 4-6 has been reported in a patient with familial breast cancer (PMID: 22473970). It is described as a gross duplication of exons 5-7 in the literature. For these reasons, this variant has been classified as Likely Pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000258200 SCV000325036 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing

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