ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8415ATC[1] (p.Ser2807del)

dbSNP: rs1060502398
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000476089 SCV000549537 uncertain significance Hereditary breast ovarian cancer syndrome 2024-07-16 criteria provided, single submitter clinical testing This variant, c.8418_8420del, results in the deletion of 1 amino acid(s) of the BRCA2 protein (p.Ser2807del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with breast and/or ovarian cancer (PMID: 35918668). ClinVar contains an entry for this variant (Variation ID: 409445). 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 RCV001017727 SCV001178853 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-12 criteria provided, single submitter clinical testing The c.8418_8420delATC variant (also known as p.S2807del) is located in coding exon 18 of the BRCA2 gene. This variant results from an in-frame ATC deletion at nucleotide positions 8418 to 8420. This results in the in-frame deletion of a serine at codon 2807. This amino acid position is 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). Based on the available evidence, the clinical significance of this variant remains unclear.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197319 SCV001367998 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2019-03-07 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP4.
GeneDx RCV004760509 SCV005373262 uncertain significance not provided 2023-08-04 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Located in the critical DNA binding domain (Yang et al., 2002); Not observed at significant frequency in large population cohorts (gnomAD); Observed in a patient with breast or ovarian cancer (Zhang et al., 2022); Also known as 8646_8648del; This variant is associated with the following publications: (PMID: 35918668, 12228710)
Center for Precision Medicine, Meizhou People's Hospital RCV002250630 SCV002520842 uncertain significance Familial cancer of breast no assertion criteria provided literature only

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