Mimix™ BRCA Somatic Multiplex I (gDNA) Reference Standard
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
Allelic Frequencies: 7.5-60%
Buffer: Tris-EDTA (10mM Tris-HCl, 1mM EDTA), pH 8.0
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 | Expected allelic frequency (%) | NGS allelic frequency (%) | NGS read depth |
|---|---|---|---|---|---|---|
| BARD1 | R378S | c.1134G>C | 2:214780740 | 42.50% | 40.79% | 885 |
| BRCA1 | D435Y | c.1303G>T | 17:43094228 | 7.50% | 7.16% | 810 |
| BRCA1 | K1183R | c.3548A>G | 17:43091983 | 7.50% | 7.98% | 815 |
| BRCA1 | K820E | c.2458A>G | 17:43093073 | 7.50% | 8.76% | 1336 |
| BRCA1 | P871L | c.2612C>T | 17:43092919 | 15.00% | 15.02% | 1052 |
| BRCA1 | R1443* | c.4327C>T | 17:43082434 | 32.50% | 32.84% | 886 |
| BRCA1 | S1634G** | c.4900A>G | 17:43071077 | 7.50% | 7.51% | 1145 |
| BRCA2 | D1420Y | c.4258G>T | 13:32338613 | 32.50% | 31.31% | 907 |
| BRCA2 | I2675Dfs*6 | c.8021dup | 13:32363217 | 10.00% | 8.29% | 603 |
| BRCA2 | K1691Nfs*15 | c.5073del | 13:32339421 | 32.50% | 32.12% | 909 |
| BRCA2 | N1784Tfs*7 | c.5351del | 13:32339699 | 40.00% | 36.99% | 1011 |
| BRCA2 | N289H | c.865A>C | 13:32332343 | 7.50% | 7.23% | 996 |
| BRCA2 | N991D | c.2971A>G | 13:32337326 | 7.50% | 6.63% | 784 |
| BRCA2 | V2466A | c.7397T>C | 13:32355250 | 100.00% | 100.00% | 717 |
| BRIP1 | S919P | c.2755T>C | 17:61685986 | 100.00% | 99.88% | 801 |
| NBN | E185Q | c.553G>C | 8:89978251 | 60.00% | 64.62% | 636 |
** This variant is also known by its secondary transcript: p.S1613G/c.4837A>G. We may use this interchangeably across our website and resources.
Unit Size: 1µg
Concentration: 50ng/µl
Exome sequencing data: Download additional information on all exonic variants present in this product. Please note: this NGS data is not batch specific.
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)
Intended use: For assay developers and molecular diagnostic labs for routine performance monitoring of molecular biology assays. Research use only. Not for diagnostic procedures.
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