ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9956CTC[1] (p.Pro3320del)

dbSNP: rs745685382
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000539984 SCV000635769 uncertain significance Hereditary breast ovarian cancer syndrome 2023-12-31 criteria provided, single submitter clinical testing This variant, c.9959_9961del, results in the deletion of 1 amino acid(s) of the BRCA2 protein (p.Pro3320del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs745685382, gnomAD 0.0009%). This variant has been observed in individual(s) with personal history of breast and/or ovarian cancer (PMID: 32438681). ClinVar contains an entry for this variant (Variation ID: 462542). 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 RCV002384091 SCV002694393 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-18 criteria provided, single submitter clinical testing The c.9959_9961delCTC variant (also known as p.P3320del) is located in coding exon 26 of the BRCA2 gene. This variant results from an in-frame CTC deletion at nucleotide positions 9959 to 9961. This results in the in-frame deletion of a proline at codon 3320. This amino acid position is not well conserved in available vertebrate species. This alteration has been identified in 2/2351 Italian individuals diagnosed with breast and/or ovarian cancer (Santonocito C et al. Cancers (Basel), 2020 May;12:). 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.
Baylor Genetics RCV004568793 SCV005059018 uncertain significance Familial cancer of breast 2024-03-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004722888 SCV005340961 uncertain significance BRCA2-related disorder 2024-08-17 no assertion criteria provided clinical testing The BRCA2 c.9959_9961delCTC variant is predicted to result in an in-frame deletion (p.Pro3320del). This variant was reported in two individuals with breast and/or ovarian cancer (Table 2. Santonocito et al. 2020. PubMed ID: 32438681). This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD, and is classified as a variant of uncertain significance in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/462542/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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