ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5277G>A (p.Lys1759=)

gnomAD frequency: 0.00001  dbSNP: rs80356854
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000216088 SCV000276109 uncertain significance Hereditary cancer-predisposing syndrome 2016-06-16 criteria provided, single submitter clinical testing The c.5277G>A variant (also known as p.K1759K), located in coding exon 18 of the BRCA1 gene, results from a G to A substitution at nucleotide position 5277. This nucleotide substitution does not change the at codon 1759. However, this change occurs in the last base pair of coding exon 18, which makes it likely to have some effect on normal mRNA splicing. However, one functional study found that this nucleotide substitution is tolerated in a high throughput genome editing haploid cell survival assay (Findlay GM et al. Nature, 2018 10;562:217-222). This nucleotide position is highly conserved in available vertebrate species. Using two different splice site prediction tools, this alteration is predicted by BDGP to abolish the native splice donor site, but is predicted to weaken (but not abolish) the efficiency of the native splice donor site by ESEfinder; however, direct evidence is unavailable
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112596 SCV000326236 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112596 SCV000145432 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 1997-11-14 no assertion criteria provided clinical testing
Brotman Baty Institute, University of Washington RCV000112596 SCV001242991 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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