Description
The BRCA2 p.Ile1607Val variant was identified by Suter (2004) in a healthy control subject, but was not identified in any of the breast cancer affected probands from this study. The variant was listed in the UMD as an unclassified variant in one sample. It was identified in dbSNP (ID: rs200582465) “With allele of Uncertain significance”, with a minor allele frequency of 0.0005 (1000 Genomes Project); however, this is based on only one observation of the variant allele. The variant was not listed in any of the other databases searched, including HGMD, COSMIC, LOVD and BIC. This residue is not conserved in mammals or lower organisms and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM) do not suggest a high likelihood of impact to the protein. However, this information is not predictive enough to rule out pathogenicity. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of unknown significance.
| # | 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 |
