ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.3378A>C (p.Glu1126Asp) (rs145855459)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000116156 SCV000172958 likely benign Hereditary cancer-predisposing syndrome 2018-01-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: in silico models in agreement (benign),Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Color RCV000116156 SCV000910768 benign Hereditary cancer-predisposing syndrome 2016-02-17 criteria provided, single submitter clinical testing
Counsyl RCV000410562 SCV000489879 uncertain significance Fanconi anemia, complementation group J 2016-07-06 criteria provided, single submitter clinical testing
Counsyl RCV000411633 SCV000489880 uncertain significance Neoplasm of ovary 2016-07-06 criteria provided, single submitter clinical testing
GeneDx RCV000212334 SCV000150065 likely benign not specified 2017-10-19 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.
Integrated Genetics/Laboratory Corporation of America RCV000587193 SCV000699720 benign not provided 2016-08-08 criteria provided, single submitter clinical testing Variant summary: The BRIP1 c.3378A>C (p.Glu1126Asp) variant involves the alteration of a non-conserved nucleotide. 4/5 in silico tools predict a benign outcome for this variant . This variant was found in 26/121034 control chromosomes (1 homozygote), predominantly observed in the African subpopulation at a frequency of 0.002549 (26/10200). This frequency is about 41 times the estimated maximal expected allele frequency of a pathogenic BRIP1 variant (0.0000625), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, one clinical diagnostic laboratory classified this variant as uncertain significance and another lab classified this variant as likely benign, all without evidence to independently evaluate. One internal sample also carried a pathogenic variant in RAD51C gene, further supporting the benign classification of the variant of interest. Taken together, this variant is classified as benign.
Invitae RCV000199757 SCV000253629 likely benign Familial cancer of breast; Fanconi anemia, complementation group J 2018-01-04 criteria provided, single submitter clinical testing

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