ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3214del (p.Glu1071_Leu1072insTer) (rs80357923)

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Total submissions: 4
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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) RCV000112030 SCV000299896 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000048101 SCV000076114 pathogenic Hereditary breast and ovarian cancer syndrome 2017-05-11 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide in exon 10 of the BRCA1 mRNA (c.3214delC), causing a frameshift at codon 1072. This creates a premature translational stop signal (p.Leu1072*) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic. This particular variant has been reported in individuals affected with breast and/or ovarian cancer (PMID: 22970155, 26187060). This variant is also known as 3333delC in the literature. ClinVar contains an entry for this variant (Variation ID: 54798). For these reasons, this variant has been classified as Pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112030 SCV000325578 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112030 SCV000144678 not provided Breast-ovarian cancer, familial 1 no assertion provided clinical testing

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