Description
Frameshift variant predicted to result in protein truncation in a gene for which loss of function is a known mechanism of disease; Published functional studies demonstrate a damaging effect: cell line with this variant exhibited sensitivity to MMC exposure, increased IR induction of foci (present in both cytoplasm and nucleus) and absent FANCD2/BRCA2 complex in chromatin (Wang 2004); Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants are considered pathogenic by a well-established clinical consortium and/or database.; Also known as c.9900dupA; This variant is associated with the following publications: (PMID: 24301060, 28152038, 24156927, 14559878, 16683254, 16115142, 25447315, 25452441, 15689453, 24312913, 11597388, 15645491, 22921157, 26846091, 26740091, 22720145, 29922827, 29446198, 29753700, 30720243, 30291343, 32341426, 30787465, 31076742, 35216584, 12065746, 15199141, 10733923, 9126738)
# | Sample | Method | Observation |
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Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
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1 | germline | yes | not provided | not provided | not provided | | not provided | not provided | not provided | not provided |