ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3009_3010del (p.His1003fs)

dbSNP: rs397507300
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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) RCV000031395 SCV000300580 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.
Ambry Genetics RCV000132309 SCV000187395 pathogenic Hereditary cancer-predisposing syndrome 2019-08-08 criteria provided, single submitter clinical testing The c.3009_3010delCA pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a deletion of two nucleotides at nucleotide positions 3009 to 3010, causing a translational frameshift with a predicted alternate stop codon (p.H1003Qfs*5). This alteration was identified in multiple individuals with HBOC related cancers (Sharma et al. Acta Oncol 2016 May;55(3):377-81; Rebbeck et al. Hum. Mutat. 2018 05;39(5):593-620). This mutation was also described in the literature as c.3237_3238delCA. 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.
Invitae RCV000232051 SCV000283199 pathogenic Hereditary breast ovarian cancer syndrome 2021-08-12 criteria provided, single submitter clinical testing
GeneDx RCV000255011 SCV000321455 pathogenic not provided 2021-11-04 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 of BRCA2-related cancers (Sharma et al., 2016; Palmer et al., 2020); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Also known as 3237_3238del; This variant is associated with the following publications: (PMID: 28152038, 32427313, 26004055)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031395 SCV000326800 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000031395 SCV000677710 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2017-01-25 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031395 SCV000054000 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2011-08-09 no assertion criteria provided clinical testing
PerkinElmer Genomics RCV000255011 SCV002022579 pathogenic not provided 2019-08-14 no assertion criteria provided clinical testing

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