ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.44_45insATT (p.Phe15_Lys16insLeu) (rs80359445)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471275 SCV000549584 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-11-08 criteria provided, single submitter clinical testing This variant, c.44_45insATT, results in the insertion of 1 amino acid to the BRCA2 protein (p.Ile14_Phe15insLeu), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs766906962, ExAC 0.002%). This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 125984). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the inserted amino acid 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.
GeneDx RCV000587606 SCV000568879 uncertain significance not provided 2018-11-05 criteria provided, single submitter clinical testing This in-frame insertion of three nucleotides in BRCA2 is denoted c.44_45insATT at the cDNA level and p.Ile14_Phe15insLeu (I14_F15insL) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 272_273insATT. The normal sequence, with the bases that are inserted in brackets, is ATTTT[insATT]TAAG. This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. This variant was not observed at a significant allele frequency in large population cohorts (Lek 2016). This insertion of a single Leucine residue is not located in a known functional domain. Since in-frame insertions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider BRCA2 Ile14_Phe15insLeu to be a variant of uncertain significance.
Ambry Genetics RCV000510058 SCV000608028 uncertain significance Hereditary cancer-predisposing syndrome 2016-02-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000510058 SCV000683616 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-06 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587606 SCV000694768 uncertain significance not provided 2016-11-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587606 SCV000887816 uncertain significance not provided 2018-06-05 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113051 SCV000146058 uncertain significance Breast-ovarian cancer, familial 2 1999-04-05 no assertion criteria provided clinical testing

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