ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6039del (p.Val2014fs)

dbSNP: rs876660637
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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) RCV000256757 SCV000324408 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000216951 SCV000278236 pathogenic Hereditary cancer-predisposing syndrome 2016-12-27 criteria provided, single submitter clinical testing The c.6039delA pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a deletion of one nucleotide at nucleotide position 6039, causing a translational frameshift with a predicted alternate stop codon (p.K2013Kfs*27). 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.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000256757 SCV000327337 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2015-10-02 criteria provided, single submitter clinical testing
Mendelics RCV000256757 SCV001139133 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000709323 SCV002232032 pathogenic Hereditary breast ovarian cancer syndrome 2021-08-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Val2014Tyrfs*26) 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). This variant is not present in population databases (ExAC no frequency). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 28423363). ClinVar contains an entry for this variant (Variation ID: 233786).
GeneDx RCV002466473 SCV002762154 pathogenic not provided 2022-06-07 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; Observed in individuals with a personal or family history consistent with pathogenic variants in this gene (Tedaldi 2017, Santonocito 2020, Rapposelli 2021); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Not observed at significant frequency in large population cohorts (gnomAD); Also known as 6267delA; This variant is associated with the following publications: (PMID: 28423363, 32438681, 34034685)

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