ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5270_5286del (p.Tyr1757fs) (rs80359502)

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Total submissions: 8
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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) RCV000113412 SCV000300856 pathogenic Breast-ovarian cancer, familial 2 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 RCV000113412 SCV000327190 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000113412 SCV000488694 likely pathogenic Breast-ovarian cancer, familial 2 2016-05-25 criteria provided, single submitter clinical testing
Invitae RCV000471757 SCV000549767 pathogenic Hereditary breast and ovarian cancer syndrome 2020-06-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr1757Serfs*5) 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 not been reported in the literature in individuals with BRCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 126065). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000575945 SCV000661351 pathogenic Hereditary cancer-predisposing syndrome 2019-10-11 criteria provided, single submitter clinical testing The c.5270_5286del17 pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a deletion of 17 nucleotides at nucleotide positions 5270 to 5286, causing a translational frameshift with a predicted alternate stop codon (p.Y1757Sfs*5). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Color Health, Inc RCV000575945 SCV001734818 pathogenic Hereditary cancer-predisposing syndrome 2020-09-15 criteria provided, single submitter clinical testing This variant deletes 17 nucleotides in exon 11 of the BRCA2 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113412 SCV000146585 pathogenic Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000656607 SCV000778683 pathogenic not provided 2016-12-06 no assertion criteria provided clinical testing

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