ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2522G>A (p.Arg841Gln) (rs80357337)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132442 SCV000187536 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000083185 SCV000144467 uncertain significance Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing
Color RCV000132442 SCV000902867 benign Hereditary cancer-predisposing syndrome 2015-11-30 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000083185 SCV000744654 likely benign Breast-ovarian cancer, familial 1 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000047868 SCV000591393 likely benign not specified 2015-04-16 criteria provided, single submitter clinical testing
GeneDx RCV000047868 SCV000209940 likely benign not specified 2017-05-10 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000083185 SCV000743414 likely benign Breast-ovarian cancer, familial 1 2017-07-28 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586890 SCV000698964 likely benign not provided 2017-03-17 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.2522G>A (p.Arg841Gln) variant involves the alteration of a non-conserved nucleotide, resulting in a missense substitution. The variant does not fall within a known functional domain (InterPro) and 4/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in the large control database ExAC at a frequency of 0.0000409 (5/122162 control chromosomes), which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). The variant has been cited in the literature numerous times, though segregation information from these studies is lacking. Two publications have conducted functional studies: one used minigene splicing assays (Anczukow_GCC_2008) and one used functional complementation assays in cultured mouse embryonic stem cells (Bouwman_Cancer Discovery_2013), both of which showed no significant effect on function caused by the variant. The variant is associated with 17 records in the UMD database, 2 of which have co-occurring pathogenic variants (UMD IDs: 2532 and 3394, carrying BRCA1 c.2126insA [p.Phe709TyrfsX3] and BRCA2 c.7069_7070delCT [p.Leu2357ValfsX2], respectively). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign (2x) or benign (2x). Taken together, this variant is classified as likely benign.
Invitae RCV000225760 SCV000075881 likely benign Hereditary breast and ovarian cancer syndrome 2017-11-18 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083185 SCV000115259 benign Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing

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