ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.715del (p.Ser239fs)

dbSNP: rs431825350
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Total submissions: 9
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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) RCV000082969 SCV000300349 pathogenic Breast-ovarian cancer, familial, susceptibility to, 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 RCV000082969 SCV000327600 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2015-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000467260 SCV000549539 pathogenic Hereditary breast ovarian cancer syndrome 2022-08-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser239Valfs*2) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). ClinVar contains an entry for this variant (Variation ID: 96848). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions.
GeneDx RCV000482565 SCV000569979 pathogenic not provided 2024-06-16 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Has not been previously published as pathogenic or benign to our knowledge; Also known as 943del; This variant is associated with the following publications: (PMID: 30787465, 31447099)
Ambry Genetics RCV000563476 SCV000661409 pathogenic Hereditary cancer-predisposing syndrome 2024-09-05 criteria provided, single submitter clinical testing The c.715delA pathogenic mutation, located in coding exon 8 of the BRCA2 gene, results from a deletion of one nucleotide at nucleotide position 715, causing a translational frameshift with a predicted alternate stop codon (p.S239Vfs*2). 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 Diagnostics, LLC DBA Color Health RCV000563476 SCV000683855 pathogenic Hereditary cancer-predisposing syndrome 2020-05-22 criteria provided, single submitter clinical testing This variant deletes 1 nucleotide in exon 9 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000482565 SCV002047308 pathogenic not provided 2021-06-06 criteria provided, single submitter clinical testing This frameshift variant causes the premature termination of BRCA2 protein synthesis. In addition, it has been reported in an individual undergoing genetic testing in the published literature (PMID: 31447099 (2019)). Based on the available information, this variant is classified as pathogenic.
Baylor Genetics RCV003460759 SCV004214603 pathogenic Familial cancer of breast 2020-11-27 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000082969 SCV000115043 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2012-05-01 no assertion criteria provided clinical testing

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