ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7847del (p.Ser2616fs) (rs80359685)

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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) RCV000113833 SCV000301208 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 RCV000213408 SCV000275264 pathogenic Hereditary cancer-predisposing syndrome 2020-09-24 criteria provided, single submitter clinical testing The c.7847delC pathogenic mutation, located in coding exon 16 of the BRCA2 gene, results from a deletion of one nucleotide at nucleotide position 7847, causing a translational frameshift with a predicted alternate stop codon (p.S2616Lfs*32). 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.
Counsyl RCV000113833 SCV000677698 likely pathogenic Breast-ovarian cancer, familial 2 2017-05-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284587 SCV001470448 pathogenic not provided 2019-12-02 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and not found in general population data.
Invitae RCV001386968 SCV001587422 pathogenic Hereditary breast and ovarian cancer syndrome 2020-02-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser2616Leufs*32) 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 individuals in the Leiden Open-source Variation Database (PMID: 21520333) and the Breast Cancer Information Core database (PMID: 10923033). ClinVar contains an entry for this variant (Variation ID: 52426). 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) RCV000113833 SCV000147202 pathogenic Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing

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