ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.922_924delinsT (p.Lys307_Ser308insTer) (rs397509335)

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Total submissions: 7
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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) RCV000077633 SCV000299506 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 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 RCV000077633 SCV000326458 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506141 SCV000600445 pathogenic not provided 2017-02-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000574451 SCV000661079 pathogenic Hereditary cancer-predisposing syndrome 2017-10-05 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV000637667 SCV000759137 pathogenic Hereditary breast and ovarian cancer syndrome 2020-01-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser308*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with breast or ovarian cancer and is a recurrent variant in the Korean population (PMID: 15365993, 16455195, 22006311, 22798144, 26402875). This variant is also known as 1041_1043delAGCinsT in the literature. ClinVar contains an entry for this variant (Variation ID: 55753). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Color RCV000574451 SCV001356329 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077633 SCV000109436 pathogenic Breast-ovarian cancer, familial 1 2011-09-16 no assertion criteria provided clinical testing

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