ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.952_1015del (p.His318fs) (rs80359872)

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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) RCV000031291 SCV000323937 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 RCV000031291 SCV000326470 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV000555985 SCV000636086 pathogenic Hereditary breast and ovarian cancer syndrome 2017-04-19 criteria provided, single submitter clinical testing This sequence change deletes 64 nucleotides from exon 10 of the BRCA1 mRNA (c.952_1015del), causing a frameshift at codon 318. This creates a premature translational stop signal (p.His318Argfs*2) 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 the literature in an individual affected with breast cancer (PMID: 25971625). This variant is also known as c.952_1015del64 and 1071del64 in the literature. For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001019459 SCV001180821 pathogenic Hereditary cancer-predisposing syndrome 2019-01-18 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Sharing Clinical Reports Project (SCRP) RCV000031291 SCV000053896 pathogenic Breast-ovarian cancer, familial 1 2011-08-24 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031291 SCV000143962 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing

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