ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.3298G>A (p.Asp1100Asn) (rs587781923)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130274 SCV000185119 uncertain significance Hereditary cancer-predisposing syndrome 2015-04-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000130274 SCV000903511 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-25 criteria provided, single submitter clinical testing
Invitae RCV000546539 SCV000633663 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-05-09 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 1100 of the BRIP1 protein (p.Asp1100Asn). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs587781923, ExAC 0.006%). This variant has not been reported in the literature in individuals with BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 141666). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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.
Mendelics RCV000709526 SCV000839351 uncertain significance Fanconi anemia, complementation group J 2018-07-02 criteria provided, single submitter clinical testing

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