ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1702_1704del (p.Asn568del) (rs1555602554)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522878 SCV000618471 uncertain significance not provided 2017-05-04 criteria provided, single submitter clinical testing This in-frame deletion of three nucleotides in BRIP1 is denoted c.1702_1704delAAT at the cDNA level and p.Asn568del (N568del) at the protein level. The normal sequence, with the bases that are deleted in brackets, is CAAA[delAAT]GGGT. This deletion occurs at an amino acid that is not conserved and is not located in a known functional domain. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Since in-frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider BRIP1 Asn568del to be a variant of uncertain significance.
Counsyl RCV000662473 SCV000784968 uncertain significance Fanconi anemia, complementation group J; Neoplasm of ovary 2017-02-23 criteria provided, single submitter clinical testing

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