ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7230del (p.Phe2410fs) (rs1555286052)

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Total submissions: 5
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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) RCV000576388 SCV000783720 pathogenic Breast-ovarian cancer, familial 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000562444 SCV000673115 pathogenic Hereditary cancer-predisposing syndrome 2016-12-21 criteria provided, single submitter clinical testing The c.7230delT pathogenic mutation, located in coding exon 13 of the BRCA2 gene, results from a deletion of one nucleotide at nucleotide position 7230, causing a translational frameshift with a predicted alternate stop codon (p.F2410Lfs*59). This mutation was identified in an Argentinian high-risk breast/ovarian cancer family (Solano AR et al. Oncotarget 2016 Jul [epub ahead of print]). In addition to the clinical data presented in the literature, 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 RCV000576388 SCV000677859 likely pathogenic Breast-ovarian cancer, familial 2 2016-12-13 criteria provided, single submitter clinical testing
Invitae RCV001070667 SCV001235931 pathogenic Hereditary breast and ovarian cancer syndrome 2019-08-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe2410Leufs*59) 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 observed in an individual with family history of breast/ovarian cancer (PMID: 28947987). ClinVar contains an entry for this variant (Variation ID: 485430). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Research and Development, ARUP Laboratories RCV001644680 SCV001853209 pathogenic Breast-ovarian cancer, familial 2; Breast-ovarian cancer, familial 1; Hereditary breast and ovarian cancer syndrome 2018-04-01 criteria provided, single submitter curation

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