Description
The POLD1 c.463+8_463+9delinsTT variant was not identified in the literature nor was it identified in MutDB. The variant was identified in dbSNP (ID: rs796285537 as With other allele) and ClinVar (3x as likely benign and 1x as benign). The variant was not identified in the following control databases: the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project, the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). However, each nucleotide substitution included in this variant was identified in control databases: c.463+8G>T at a frequency of 0.1, c.463+9C>T at a frequency of 0.007, and both occurring at the highest frequency in the African population (Genome Aggregation Database Feb 27, 2017). In addition, the two variants are sometimes identified in both ExAC and Gnomad as occurring in cis (c.463+8_463+9delinsTT variant), which can be seen in the IGV tracks provided; however, frequency information is not available at this time. In summary, the clinical significance of this variant cannot be determined with certainty at this time, although available information suggests a benign role. This variant is classified as likely benign.
| # | Sample | Method | Observation |
|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
|---|
| 1 | unknown | yes | not provided | not provided | not provided | | not provided | not provided | not provided | not provided |
