ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.612C>G (p.Ser204=) (rs587780832)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000123362 SCV000166685 likely benign Familial cancer of breast; Fanconi anemia, complementation group J 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334659 SCV000404613 uncertain significance Neoplasm of the breast 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000410021 SCV000404614 uncertain significance Fanconi anemia, complementation group J 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Counsyl RCV000410021 SCV000489959 likely benign Fanconi anemia, complementation group J 2016-08-24 criteria provided, single submitter clinical testing
Counsyl RCV000411574 SCV000489960 likely benign Neoplasm of ovary 2016-08-24 criteria provided, single submitter clinical testing
GeneDx RCV000603905 SCV000730995 likely benign not specified 2018-01-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color RCV000776533 SCV000912129 likely benign Hereditary cancer-predisposing syndrome 2018-02-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000776533 SCV001187018 likely benign Hereditary cancer-predisposing syndrome 2019-03-06 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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