ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4503C>A (p.Cys1501Ter) (rs747539984)

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Total submissions: 3
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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) RCV000256519 SCV000323772 pathogenic Breast-ovarian cancer, familial 1 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000256519 SCV000325989 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV000472996 SCV000549326 pathogenic Hereditary breast and ovarian cancer syndrome 2018-09-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1501 (p.Cys1501*) of the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Truncating variants in BRCA1 are known to be pathogenic. This particular truncation has been reported in 3 family members affected with breast cancer (PMID: 25948282). For these reasons, this variant has been classified as Pathogenic.

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