ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1704T>G (p.Asn568Lys) (rs763458922)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221496 SCV000274038 uncertain significance Hereditary cancer-predisposing syndrome 2016-06-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000221496 SCV000684153 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-12 criteria provided, single submitter clinical testing
Invitae RCV000636144 SCV000757576 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-12-13 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 568 of the BRIP1 protein (p.Asn568Lys). The asparagine residue is weakly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is present in population databases (rs763458922, ExAC 0.001%). This variant has been reported as heterozygous in 2 individuals affected with breast cancer (PMID: 26921362).  ClinVar contains an entry for this variant (Variation ID: 230476). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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