ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5205del (p.Val1736fs) (rs587781258)

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Total submissions: 2
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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) RCV000241143 SCV000300222 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Faculty of Pharmacy, Ain Shams University RCV000128632 SCV000172260 pathogenic Familial cancer of breast 2013-01-12 no assertion criteria provided clinical testing This deletion lies within the BRCA1 BRCT repeats that are known to bind proteins involved in DNA damage checkpoint regulation and DSB repair. This results in loss of BRCA1 tumor suppressor function leading to genomic instability and, ultimately, the onset of breast and ovarian cancers. It is predicted to cause termination of BRCA1 protein translation at codon 1764. Two previously described mutations in the BIC database create a stop codon at the same position and are reported to be of clinical significance.

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