ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1166C>A (p.Pro389Gln) (rs397507263)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3DMed Clinical Laboratory Inc RCV000677855 SCV000804015 uncertain significance Neoplasm of the breast 2017-06-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000129740 SCV000184546 likely benign Hereditary cancer-predisposing syndrome 2017-06-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification,in silico models in agreement (benign)
Color RCV000129740 SCV000910641 benign Hereditary cancer-predisposing syndrome 2016-06-14 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000436893 SCV000591731 likely benign not specified 2015-03-18 criteria provided, single submitter clinical testing
GeneDx RCV000436893 SCV000515841 likely benign not specified 2017-06-02 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.
Illumina Clinical Services Laboratory,Illumina RCV000294429 SCV000383629 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000197010 SCV000383630 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587492 SCV000694513 benign not provided 2016-06-22 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.1166C>A (p.Pro389Gln) variant involves the alteration of a non-conserved nucleotide. The variant is located outside of any known functional domain and 3/4 in silico tools predict a benign outcome (SNPs&GO not captured due to low reliability index). This variant was found in 60/120896 control chromosomes (2 homozygotes), predominantly observed in the South Asians, a frequency of 0.0036399 (60/16484). This subpopulation frequency is about 5 times the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503), suggesting this is likely a benign polymorphism found primarily in the populations of South Asian origin. The variant has been cited in 2 breast cancer patients without evidence of causality (i.e. co-segregation). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as Benign/Likely Benign. Taken together and based on the high allele frequency in the South Asian subpopulation in the ExAC database, this missense variant is classified as Benign.
Invitae RCV000197010 SCV000252603 benign Hereditary breast and ovarian cancer syndrome 2017-12-25 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000436893 SCV000600469 likely benign not specified 2017-05-24 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587492 SCV000887749 benign not provided 2018-06-27 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000082883 SCV000114957 benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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