ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2241dupC (p.Lys748Glnfs) (rs80357650)

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Total submissions: 5
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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) RCV000077096 SCV000299730 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 RCV000047771 SCV000075784 pathogenic Hereditary breast and ovarian cancer syndrome 2016-12-06 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 10 of the BRCA1 mRNA (c.2241dupC), causing a frameshift at codon 748. This creates a premature translational stop signal (p.Lys748Glnfs*14) 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 two siblings who developed multiple cancers, one with ovarian and breast cancer, and the other with ovarian and colon cancer (PMID: 20567915). For these reasons, this variant has been classified as Pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077096 SCV000325305 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneKor MSA RCV000585699 SCV000693517 pathogenic Familial cancer of breast 2018-08-01 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077096 SCV000108893 pathogenic Breast-ovarian cancer, familial 1 2006-11-17 no assertion criteria provided clinical testing

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