ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5106_5109AGAA[1] (p.Glu1703_Arg1704insTer) (rs879254123)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000776493 SCV000912075 pathogenic Hereditary cancer-predisposing syndrome 2018-05-21 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000257060 SCV000327131 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000257060 SCV000677844 likely pathogenic Breast-ovarian cancer, familial 2 2017-01-03 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000257060 SCV000324297 pathogenic Breast-ovarian cancer, familial 2 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000235563 SCV000293579 pathogenic not provided 2015-11-17 criteria provided, single submitter clinical testing This deletion of 4 nucleotides is denoted BRCA2 c.5110_5113delAGAA at the cDNA level and p.Arg1704Ter (R1704X) at the protein level. The normal sequence, with the bases that are deleted in braces, is AGAA[AGAA]TAAA. The deletion creates a nonsense variant, which changes an Arginine to a premature stop codon. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA2 c.5110_5113delAGAA has been observed in a cohort of individuals with advanced stage cancer diagnoses (Schrader 2015). This variant is considered pathogenic.
Invitae RCV000457247 SCV000549606 pathogenic Hereditary breast and ovarian cancer syndrome 2018-08-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1704*) 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 reported in an individual affected with thyroid carcinoma (PMID: 26556299). ClinVar contains an entry for this variant (Variation ID: 246151). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.

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