ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.301+7G>A

gnomAD frequency: 0.00006  dbSNP: rs80358113
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031080 SCV001161508 benign Breast-ovarian cancer, familial, susceptibility to, 1 2019-06-18 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 9.89E-13
GeneDx RCV000168481 SCV000209904 benign not specified 2014-06-24 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.
Invitae RCV001086785 SCV000252814 benign Hereditary breast ovarian cancer syndrome 2021-12-13 criteria provided, single submitter clinical testing
Counsyl RCV000031080 SCV000488102 benign Breast-ovarian cancer, familial, susceptibility to, 1 2015-12-28 criteria provided, single submitter clinical testing
Color Health, Inc RCV000579925 SCV000683078 likely benign Hereditary cancer-predisposing syndrome 2015-07-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759515 SCV000888882 benign not provided 2018-06-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000168481 SCV000918797 benign not specified 2021-07-07 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.301+7G>A alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. At least two publication reports experimental evidence evaluating an impact on splicing. These results showed no damaging effect of this variant (Steffensen_2014, Houdayer_2012). The variant allele was found at a frequency of 9.5e-05 in 251608 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in BRCA1 causing Hereditary Breast And Ovarian Cancer Syndrome (9.5e-05 vs 0.001), allowing no conclusion about variant significance. c.301+7G>A has been reported in the literature in individuals affected with Breast and Ovarian Cancer (Konstantopoulou_2008, Ratajska_2014, Kluska_2015). These reports do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. Six ClinVar submitters (evaluation after 2014) cite the variant as benign (4x) and likely benign (2x). Based on the evidence outlined above, the variant was classified as benign.
CeGaT Center for Human Genetics Tuebingen RCV000759515 SCV001151341 benign not provided 2022-03-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000168481 SCV002072390 likely benign not specified 2019-04-23 criteria provided, single submitter clinical testing
Sema4,Sema4 RCV000579925 SCV002538168 likely benign Hereditary cancer-predisposing syndrome 2021-04-11 criteria provided, single submitter curation
Sharing Clinical Reports Project (SCRP) RCV000031080 SCV000053676 benign Breast-ovarian cancer, familial, susceptibility to, 1 2011-03-14 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031080 SCV000144958 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2002-05-29 no assertion criteria provided clinical testing
Brotman Baty Institute,University of Washington RCV000031080 SCV001238612 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000168481 SCV002551062 benign not specified 2022-02-07 no assertion criteria provided clinical testing

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