ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.587A>G (p.Asn196Ser) (rs550707862)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235147 SCV000150072 likely benign not specified 2018-01-02 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.
Ambry Genetics RCV000116163 SCV000184386 likely benign Hereditary cancer-predisposing syndrome 2019-04-04 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Invitae RCV001082539 SCV000253631 benign Familial cancer of breast; Fanconi anemia, complementation group J 2019-12-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586611 SCV000699731 likely benign not provided 2017-05-15 criteria provided, single submitter clinical testing Variant summary: The BRIP1 c.587A>G (p.Asn196Ser) variant involves the alteration of a non-conserved nucleotide. 5/5 in silico tools predict a benign outcome for this variant. This variant was found in 55/121326 control chromosomes, predominantly observed in the East Asian subpopulation at a frequency of 0.005904 (51/8638). This frequency is about 94 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 East Asian origin. The variant has been reported in three East Asian patients with breast cancer in the literature (Cao_2009, Kim_2016), without strong evidence for causality. Multiple clinical diagnostic laboratories/reputable databases have classified this variant as likely benign. Taken together, this variant is classified as "likely benign".
Color RCV000116163 SCV000910593 benign Hereditary cancer-predisposing syndrome 2015-04-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586611 SCV001134033 benign not provided 2018-10-02 criteria provided, single submitter clinical testing
Cancer Genomics Group,Japanese Foundation For Cancer Research RCV001030546 SCV001193542 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-05-01 criteria provided, single submitter research
Illumina Clinical Services Laboratory,Illumina RCV001127949 SCV001287317 likely benign Fanconi anemia, complementation group J 2017-11-07 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Leiden Open Variation Database RCV000235147 SCV001364462 benign not specified 2019-08-13 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Yukihide Momozawa.

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