ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7792_7794GAA[1] (p.Glu2599del) (rs80359682)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130941 SCV000185854 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-21 criteria provided, single submitter clinical testing Insufficient or conflicting evidence;Insufficient evidence
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113819 SCV000327730 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000521346 SCV000617472 uncertain significance not provided 2017-05-16 criteria provided, single submitter clinical testing This in-frame deletion of three nucleotides in BRCA2 is denoted c.7795_7797delGAA at the cDNA level and p.Glu2599del (E2599del) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 8023_8025delGAA. The normal sequence, with the bases that are deleted in brackets, is AGAA[delGAA]TTTTA. This deletion of a single Glutamic Acid residue occurs at a position that is conserved across species and is located in the DNA binding domain (Yang 2002). This variant has been reported in several individuals evaluated for Hereditary Breast and Ovarian Cancer (Coulet 2010, Caux-Moncoutier 2011, Lecarpentier 2012, Castera 2014, Radrigeuz-Balada 2016). Since in-frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider BRCA2 Glu2599del to be a variant of uncertain significance.
Mendelics RCV000113819 SCV001139192 likely pathogenic Breast-ovarian cancer, familial 2 2019-05-28 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113819 SCV000147182 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing

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