Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000164930 | SCV000215619 | uncertain significance | Hereditary cancer-predisposing syndrome | 2014-06-28 | criteria provided, single submitter | clinical testing | The p.Q3036K variant (also known as c.9106C>A and<span style="background-color: initial;">9334C>A<span style="background-color: initial;">), located in coding exon 22 of the <em style="background-color: initial;">BRCA2<span style="background-color: initial;"> gene, results from a C to A substitution at nucleotide position 9106. The glutamine at codon 3036 is replaced by lysine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6502 samples (13,004 alleles) with coverage at this position.<span style="background-color: initial;">To date, this alteration has been detected with an allele frequency of approximately 0.002% (greater than 42,000 alleles tested) in our clinical cohort (includes this individual).<span style="background-color: initial;">This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be possibly damaging by PolyPhen but tolerated by SIFT <em style="background-color: initial;">in silico<span style="background-color: initial;"> analyses.<span style="background-color: initial;">Since supporting evidence is limited at this time, the clinical significance of p.Q3036K remains unclear. |