ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8548_8551del (p.Glu2850fs) (rs397507406)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000484733 SCV000883484 pathogenic not provided 2017-06-20 criteria provided, single submitter clinical testing The BRCA2 c.8548_8551delGAAG; p.Glu2850fs variant (rs397507406) has been reported in at least one individual with a personal and/or family history of breast and/or ovarian cancer (Caux-Moncoutier 2011). This variant is reported in ClinVar as pathogenic (Variation ID: 38167), and is absent from general population databases (1000 Genomes Project, Exome Variant Server, Genome Aggregation Database). This variant creates a frameshift and is predicted to result in a truncated protein or absent transcript. Taken together, this variant is considered pathogenic. REFERENCES Link to ClinVar database for c.8548_8551delGAAG: https://www.ncbi.nlm.nih.gov/clinvar/variation/38167/ Caux-Moncoutier V et al. EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients. Hum Mutat. 2011 Mar;32(3):325-34.
Ambry Genetics RCV000509878 SCV000607867 pathogenic Hereditary cancer-predisposing syndrome 2017-07-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Color RCV000509878 SCV000905024 pathogenic Hereditary cancer-predisposing syndrome 2017-11-09 criteria provided, single submitter clinical testing
Counsyl RCV000031750 SCV000677713 pathogenic Breast-ovarian cancer, familial 2 2017-05-12 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031750 SCV000301288 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000484733 SCV000568494 pathogenic not provided 2016-06-30 criteria provided, single submitter clinical testing This deletion of four nucleotides in BRCA2 is denoted c.8548_8551delGAAG at the cDNA level and p.Glu2850GlnfsX12 (E2850QfsX12) at the protein level. The surrounding sequence is AAAG[GAAG]CAGC. The deletion causes a frameshift which changes a Glutamic Acid to a Glutamine at codon 2850, and creates a premature stop codon at position 12 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA2 c.8548_8551delGAAG, also defined as BRCA2 8776_8779delGAAG using alternate nomenclature, has been reported in at least one individual with a personal and/or family history of breast and/or ovarian cancer (Caux-Moncoutier 2011). We consider this variant to be pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000484733 SCV000889157 pathogenic not provided 2018-06-08 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031750 SCV000054358 pathogenic Breast-ovarian cancer, familial 2 2012-02-16 no assertion criteria provided clinical testing

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