ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2217dup (p.Val740fs) (rs80357802)

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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) RCV000111797 SCV000299727 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000111797 SCV000296423 pathogenic Breast-ovarian cancer, familial 1 2016-01-27 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000111797 SCV000325300 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Mendelics RCV000709480 SCV000839270 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Invitae RCV000709480 SCV000954335 pathogenic Hereditary breast and ovarian cancer syndrome 2018-08-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val740Serfs*3) 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 in the Breast Cancer Information Core database (PMID: 10923033). ClinVar contains an entry for this variant (Variation ID: 125548). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000111797 SCV000144342 pathogenic Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing

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