ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3189_3192del (p.Ser1064fs) (rs80359374)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566187 SCV000673070 pathogenic Hereditary cancer-predisposing syndrome 2016-11-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Breast Cancer Information Core (BIC) (BRCA2) RCV000113143 SCV000146185 pathogenic Breast-ovarian cancer, familial 2 2001-10-29 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113143 SCV000326831 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113143 SCV000300599 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneKor MSA RCV000238980 SCV000296819 pathogenic not provided 2017-11-01 criteria provided, single submitter clinical testing
Invitae RCV000044142 SCV000072155 pathogenic Hereditary breast and ovarian cancer syndrome 2016-10-21 criteria provided, single submitter clinical testing This sequence change deletes 4 nucleotides from exon 11 of the BRCA2 mRNA (c.3189_3192delGTCA), causing a frameshift at codon 1064. This creates a premature translational stop signal (p.Ser1064Leufs*12) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic. This particular variant has been reported in individuals affected with breast cancer (PMID: 10505028, 26911350). This variant is also known as c.3186_3189delTCAG or 3414delTCAG in the literature. For these reasons, this variant has been classified as Pathogenic.
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000044142 SCV000587663 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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