ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3859_3860del (p.Lys1286_Asn1287insTer) (rs80359406)

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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) RCV000113228 SCV000300673 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000216461 SCV000278213 pathogenic Hereditary cancer-predisposing syndrome 2015-09-13 criteria provided, single submitter clinical testing The c.3859_3860delAA pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a deletion of two nucleotides between nucleotide positions 3859 and 3860, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Counsyl RCV000113228 SCV000488437 likely pathogenic Breast-ovarian cancer, familial 2 2016-03-29 criteria provided, single submitter clinical testing
Color Health, Inc RCV000216461 SCV000906905 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing
Invitae RCV000496958 SCV001586044 pathogenic Hereditary breast and ovarian cancer syndrome 2017-06-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn1287*) in the BRCA2 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 an individual in the Breast Cancer Information Core database (PMID: 10923033). ClinVar contains an entry for this variant (Variation ID: 51543). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113228 SCV000146314 pathogenic Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496958 SCV000587683 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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