ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2662C>T (p.His888Tyr) (rs757668121)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000198208 SCV000255160 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-11-26 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 888 of the BRIP1 protein (p.His888Tyr). The histidine residue is weakly conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is present in population databases (rs757668121, ExAC 0.03%). This variant has not been reported in the literature in individuals with BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 216792). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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.
Counsyl RCV000410305 SCV000490045 uncertain significance Fanconi anemia, complementation group J 2016-10-11 criteria provided, single submitter clinical testing
Counsyl RCV000411371 SCV000490046 uncertain significance Neoplasm of ovary 2016-10-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561017 SCV000661466 uncertain significance Hereditary cancer-predisposing syndrome 2017-11-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000561017 SCV000689354 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-26 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679782 SCV000807137 uncertain significance not provided 2017-03-27 criteria provided, single submitter clinical testing

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