ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1647GGA[1] (p.Glu550del)

dbSNP: rs2072418473
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001064931 SCV001229868 uncertain significance Hereditary breast ovarian cancer syndrome 2022-05-31 criteria provided, single submitter clinical testing This variant, c.1650_1652del, results in the deletion of 1 amino acid(s) of the BRCA2 protein (p.Glu550del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 858939). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004030565 SCV005024689 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-29 criteria provided, single submitter clinical testing The c.1650_1652delGGA variant (also known as p.E550del) is located in coding exon 9 of the BRCA2 gene. This variant results from an in-frame GGA deletion at nucleotide positions 1650 to 1652. This results in the in-frame deletion of a glutamic acid at codon 550. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004998631 SCV005624327 uncertain significance not provided 2023-10-25 criteria provided, single submitter clinical testing The BRCA2 c.1650_1652del (p.Glu550del) variant has not been reported in individuals with BRCA2-related conditions in the published literature. The frequency of this variant in the general population, 0.0000066 (1/152244 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Based on the available information, we are unable to determine the clinical significance of this variant.

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