ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5708TTC[1] (p.Leu1904del)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002347645 SCV002649620 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-20 criteria provided, single submitter clinical testing The c.5711_5713delTTC variant (also known as p.L1904del) is located in coding exon 10 of the BRCA2 gene. This variant results from an in-frame TTC deletion at nucleotide positions 5711 to 5713. This results in the in-frame deletion of a leucine at codon 1904. This amino acid position is not 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). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003096849 SCV003202317 uncertain significance Hereditary breast ovarian cancer syndrome 2022-05-24 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This variant, c.5711_5713del, results in the deletion of 1 amino acid(s) of the BRCA2 protein (p.Leu1904del), but otherwise preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

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