ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4122_4123del (p.Ser1374fs) (rs80357691)

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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) RCV000112265 SCV000300077 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 RCV000048451 SCV000076464 pathogenic Hereditary breast and ovarian cancer syndrome 2016-08-10 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 11 of the BRCA1 mRNA (c.4122_4123delTG), causing a frameshift at codon 1374. This creates a premature translational stop signal (p.Ser1374Argfs*6) 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 patients affected with breast cancer (PMID: 22034289, 22739995). This variant is also known as 4241delTG in the literature. For these reasons, this variant has been classified as Pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112265 SCV000325857 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112265 SCV000144989 pathogenic Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing

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