ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1938_1947del (p.Ser646fs) (rs397508920)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000257496 SCV000325189 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000257496 SCV000323376 pathogenic Breast-ovarian cancer, familial 1 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Integrated Genetics/Laboratory Corporation of America RCV000496751 SCV000918680 pathogenic Hereditary breast and ovarian cancer syndrome 2017-11-24 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.1938_1947delCAGTGAAGAG (p.Ser646ArgfsX2) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g.c.2019delA/p.Glu673fsX28, c.2035A>T/p.Lys679X). This variant has been reported in at least 2 Slovak HBOC families and is absent from 276832 control chromosomes. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496751 SCV000587170 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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