ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2857_2859GAG[1] (p.Glu954del) (rs80359360)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221597 SCV000273079 uncertain significance Hereditary cancer-predisposing syndrome 2016-03-16 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113108 SCV000146133 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing
Color RCV000221597 SCV000906895 likely benign Hereditary cancer-predisposing syndrome 2017-01-26 criteria provided, single submitter clinical testing
Counsyl RCV000113108 SCV000489209 uncertain significance Breast-ovarian cancer, familial 2 2016-09-06 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000482589 SCV000591829 uncertain significance not specified 2014-02-04 criteria provided, single submitter clinical testing
GeneDx RCV000657153 SCV000573348 uncertain significance not provided 2017-11-27 criteria provided, single submitter clinical testing This in-frame deletion of three nucleotides in BRCA2 is denoted c.2860_2862delGAG at the cDNA level and p.Glu954del (E954del) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 c.3088_3090delGAG. The normal sequence, with the bases that are deleted in brackets, is AGAG[delGAG]AACA. This deletion occurs in a region that is not located in a known functional domain. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. 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 Glu954del to be a variant of uncertain significance.
Invitae RCV000044077 SCV000072090 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-06-25 criteria provided, single submitter clinical testing This sequence change deletes 3 nucleotides from exon 11 of the BRCA2 mRNA (c.2860_2862delGAG). This leads to the deletion of one amino acid residue in the BRCA2 protein (p.Glu954del) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual in the Breast Cancer Information Core database (PMID: 10923033). However, in that individual a pathogenic allele was also identified in the BRCA1 gene, which suggests that the c.2860_2862delGAG variant in BRCA2 was not the primary cause of disease. ClinVar contains an entry for this variant (Variation ID: 51362). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. In summary, this is a small in-frame deletion with unknown impact on protein function. It has been classified as a Variant of Uncertain Significance.

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