ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4676-1G>A (rs80358008)

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Total submissions: 6
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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) RCV000112381 SCV001161640 pathogenic Breast-ovarian cancer, familial 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 5 based on posterior probability = 0.999912
Invitae RCV000205534 SCV000259258 likely pathogenic Hereditary breast and ovarian cancer syndrome 2015-07-02 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 14. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. Truncating variants in BRCA1 are known to be pathogenic. This particular truncation has been reported in an individual with triple negative breast cancer (PMID: 25452441). For these reasons, this variant has been classified as Likely Pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112381 SCV000326027 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563564 SCV000660950 likely pathogenic Hereditary cancer-predisposing syndrome 2016-03-30 criteria provided, single submitter clinical testing Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity;Rarity in general population databases (dbsnp, esp, 1000 genomes);In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Color RCV000563564 SCV001359511 likely pathogenic Hereditary cancer-predisposing syndrome 2019-05-10 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112381 SCV000145153 pathogenic Breast-ovarian cancer, familial 1 1999-06-21 no assertion criteria provided clinical testing

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