BRCA Somatic Multiplex I (gDNA)
The BRCA Somatic Multiplex Reference Standard is a highly-characterized, biologically-relevant quality control material used to assess the performance of NGS assays that detect somatic mutations.
BRCA Somatic Multiplex Reference Standard Genomic DNA
With this product you are able to:
- Analyze the specificity and specificity of your assay
- Optimize and validate new cancer panels and routinely monitor the performance of your assay
Technical Data
Format: Genomic DNA
Genes Covered: BRCA1, BRCA2, BRIP1, BARD1 and NBN
Cosmics: 15
Allelic Frequencies: 7.5-60%
Buffer: Tris-EDTA (10mM Tris-HCl, 1mM EDTA), pH 8.1
Product Information
Verified Mutations: The BRCA Somatic Multiplex I Reference Standard has been manufactured using multiple engineered cell lines and mixed to generate multiple Allelic Frequencies in multiplex.
| Gene | Variant (AA) | CDS mutation | GRCh38 co-ordinates | Legacy ID | Genomic mutation ID | Expected allelic frequency (%) | NGS allelic frequency (%) | NGS read depth |
|---|---|---|---|---|---|---|---|---|
| BARD1 | R378S | c.1134G>C | 2:214780740 | COSM3757931 | COSV53612030 | 42.50% | 40.79% | 885 |
| BRCA1 | D435Y | c.1303G>T | 17:43094228 | COSM3190122 | COSV58784979 | 7.50% | 7.16% | 810 |
| BRCA1 | K1183R | c.3548A>G | 17:43091983 | COSM148277 | COSV58784397 | 7.50% | 7.98% | 815 |
| BRCA1 | K820E | c.2458A>G | 17:43093073 | N/A | rs56082113 | 7.50% | 8.76% | 1336 |
| BRCA1 | P871L | c.2612C>T | 17:43092919 | COSM148278 | COSV58784386 | 15.00% | 15.02% | 1052 |
| BRCA1 | R1443* | c.4327C>T | 17:43082434 | COSM979730 | COSV58787462 | 32.50% | 32.84% | 886 |
| BRCA1 | S1613G | c.4900A>G | 17:43071077 | COSM3755560 | COSV58783381 | 7.50% | 7.51% | 1145 |
| BRCA2 | D1420Y | c.4258G>T | 13:32338613 | COSM3736088 | COSV66451253 | 32.50% | 31.31% | 907 |
| BRCA2 | I2675Dfs*6 | c.8021dup | 13:32363217 | COSM2071520 | COSV66451450 | 10.00% | 8.29% | 603 |
| BRCA2 | K1691Nfs*15 | c.5073del | 13:32339421 | COSM6048456 | COSV66451438 | 32.50% | 32.12% | 909 |
| BRCA2 | N1784Tfs*7 | c.5351del | 13:32339699 | COSM18607 | COSV66448906 | 40.00% | 36.99% | 1011 |
| BRCA2 | N289H | c.865A>C | 13:32332343 | COSM3999067 | COSV66448377 | 7.50% | 7.23% | 996 |
| BRCA2 | N991D | c.2971A>G | 13:32337326 | COSM4986760 | COSV66450658 | 7.50% | 6.63% | 784 |
| BRCA2 | V2466A | c.7397T>C | 13:32355250 | COSM7335572 | COSV66451785 | 100.00% | 100.00% | 717 |
| BRIP1 | S919P | c.2755T>C | 17:61685986 | N/A | rs4986764 | 100.00% | 99.88% | 801 |
| NBN | E185Q | c.553G>C | 8:89978251 | COSM3763443 | COSV55371261 | 60.00% | 64.62% | 636 |
Exome sequencing data: Download additional information on variants present in the parental cell lines
Unit Size: 1µg
Concentration: 50ng/µl
General Information
Storage: 4˚C
Expiry: See all product shelf life information
Quality Control
Allelic Frequency: Droplet Digital PCR™
Genotype: Sanger sequencing of locus specific PCR
Quality: Agarose gel electrophoresis
Quantification: Spectrophotometry (A260)
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