ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7488GAA[1] (p.Lys2498del)

dbSNP: rs80359655
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000773270 SCV000906937 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001301118 SCV001490278 uncertain significance Hereditary breast ovarian cancer syndrome 2024-12-16 criteria provided, single submitter clinical testing This variant, c.7491_7493del, results in the deletion of 1 amino acid(s) of the BRCA2 protein (p.Lys2498del), 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. 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 RCV000773270 SCV005548705 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-20 criteria provided, single submitter clinical testing The c.7491_7493delGAA variant (also known as p.K2498del) is located in coding exon 14 of the BRCA2 gene. This variant results from an in-frame GAA deletion at nucleotide positions 7491 to 7493. This results in the in-frame deletion of a lysine at codon 2498. This amino acid position is highly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. 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.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113769 SCV000147106 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 no assertion criteria provided clinical testing

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