ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4987-20A>G (rs80358035)

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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) RCV000077152 SCV000244376 benign Breast-ovarian cancer, familial 1 2015-08-10 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 = 0.000000197
Counsyl RCV000077152 SCV000220302 benign Breast-ovarian cancer, familial 1 2014-05-10 criteria provided, single submitter literature only
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000175068 SCV000226496 benign not specified 2014-08-06 criteria provided, single submitter clinical testing
Invitae RCV000197931 SCV000252818 benign Hereditary breast and ovarian cancer syndrome 2020-12-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000197931 SCV000494368 benign Hereditary breast and ovarian cancer syndrome 2014-04-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000175068 SCV000538433 benign not specified 2016-10-20 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency; ClinVar: Classified as benign by ENIGMA expert panel (8/10/15)
Baylor Genetics RCV000468319 SCV000540978 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000077152 SCV000575717 likely benign Breast-ovarian cancer, familial 1 2015-08-07 criteria provided, single submitter clinical testing
Color Health, Inc RCV000579497 SCV000683232 benign Hereditary cancer-predisposing syndrome 2015-06-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000175068 SCV000806965 benign not specified 2017-09-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282109 SCV001159430 benign none provided 2020-01-03 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077152 SCV000108949 benign Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077152 SCV000145243 uncertain significance Breast-ovarian cancer, familial 1 1999-12-30 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000175068 SCV000591553 benign not specified no assertion criteria provided clinical testing The BRCA1 c.4987-20A>G variant was identified in ClinVar (Benign, reviewed by expert panel. Classified as benign by: ENIGMA, Integrated Genetics, LMM Partners HealthCare, Baylor, EGL, ARUP Laboratories, Invitae, Counsyl, Color, Prevention Genetics, SCRP. Classified as likely benign by COGR, Fulgent. VUS by BIC). The variant was identified in dbSNP (rs80358035). The variant was identified in control databases in 226 of 282334 chromosomes (2 homozygous) at a frequency of 0.0008005, and was observed at the highest frequency in the African population in 209 of 24924 chromosomes (freq: 0.008385) (Genome Aggregation Database March 6, 2019, v2.1.1). The variant occurs outside of the splicing consensus sequence, and in silico or computational prediction software programs (Splice AI exome) do not predict a deleterious effect on splicing. In summary, based on the above information this variant meets our laboratory's criteria to be classified as benign.

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