ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9113_9115dupTAC (p.Leu3038_Pro3039insLeu) (rs80359749)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131277 SCV000186245 uncertain significance Hereditary cancer-predisposing syndrome 2018-02-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000114049 SCV000147541 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Color RCV000131277 SCV000689176 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-26 criteria provided, single submitter clinical testing
Counsyl RCV000114049 SCV000488191 uncertain significance Breast-ovarian cancer, familial 2 2016-02-18 criteria provided, single submitter clinical testing
GeneDx RCV000759683 SCV000567948 uncertain significance not provided 2015-09-15 criteria provided, single submitter clinical testing This duplication of 3 nucleotides in BRCA2 is denoted c.9113_9115dupTAC at the cDNA level and p.Leu3038dup (L3038dup) at the protein level. The normal sequence, with the bases that are duplicated in brackets, is CAAC[TAC]CGgt, where the capital letters are exonic and lowercase are intronic. This in frame duplication of a single Leucine residue and is located in the DNA binding domain (Borg 2010). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Since in frame duplications may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider BRCA2 Leu3038dup to be a variant of uncertain significance.
Invitae RCV000228966 SCV000283356 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-12-30 criteria provided, single submitter clinical testing This variant, c.9113_9115dupTAC, results in the insertion of 1 amino acid to the BRCA2 protein (p.Leu3038dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs765766653, ExAC 0.03%). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in BRCA2 in an individual affected with breast cancer (Invitae). Considering that biallelic pathogenic variants are expected to be found in an individual affected with Fanconi anemia, the evidence indicates that this variant is likely not a primary cause of disease. ClinVar contains an entry for this variant (Variation ID: 126201). 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000486391 SCV000600842 uncertain significance not specified 2016-11-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759683 SCV000889171 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing

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