ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7581AGG[1] (p.Gly2529del)

dbSNP: rs2137563288
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001975364 SCV002251216 uncertain significance Hereditary breast ovarian cancer syndrome 2023-07-16 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1464114). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.7584_7586del, results in the deletion of 1 amino acid(s) of the BRCA2 protein (p.Gly2529del), but otherwise preserves the integrity of the reading frame.
Ambry Genetics RCV002388947 SCV002675209 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-23 criteria provided, single submitter clinical testing The c.7584_7586delAGG variant (also known as p.G2529del) is located in coding exon 14 of the BRCA2 gene. This variant results from an in-frame AGG deletion at nucleotide positions 7584 to 7586. This results in the in-frame deletion of a glycine at codon 2529. This amino acid position is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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