BRCA Germline I (gDNA)
The BRCA Germline I Reference Standard is a highly-characterized, biologically-relevant quality control material used to assess the performance of NGS assays that detect germline mutations.
BRCA Germline
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: 0, 50 and 100%
Buffer: Tris-EDTA (10mM Tris-HCl, 1mM EDTA), pH 8.1
Product Information
Verified Mutations: The BRCA Germline 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 | 0.00% | c | c |
| BRCA1 | D435Y | c.1303G>T | 17:43094228 | 50.00% | 48.05% | 666 |
| BRCA1 | K1183R | c.3548A>G | 17:43091983 | 50.00% | 49.48% | 576 |
| BRCA1 | K820E | c.2458A>G | 17:43093073 | 50.00% | 51.41% | 992 |
| BRCA1 | P871L | c.2612C>T | 17:43092919 | 100.00% | 100.00% | 763 |
| BRCA1 | R1443* | c.4327C>T | 17:43082434 | 0.00% | c | c |
| BRCA1 | S1634G | c.4900A>G | 17:43071077 | 50.00% | 47.53% | 831 |
| BRCA2 | D1420Y | c.4258G>T | 13:32338613 | 0.00% | c | c |
| BRCA2 | I2675Dfs*6 | c.8021dup | 13:32363217 | 0.00% | c | c |
| BRCA2 | K1691Nfs*15 | c.5073del | 13:32339421 | 0.00% | c | c |
| BRCA2 | N1784Tfs*7 | c.5351del | 13:32339699 | 50.00% | 50.00% | 744 |
| BRCA2 | N289H | c.865A>C | 13:32332343 | 50.00% | 47.86% | 702 |
| BRCA2 | N991D | c.2971A>G | 13:32337326 | 50.00% | 49.68% | 618 |
| BRCA2 | V2466A | c.7397T>C | 13:32355250 | 100.00% | 100.00% | 385 |
| BRIP1 | S919P | c.2755T>C | 17:61685986 | 100.00% | 100.00% | 540 |
| NBN | E185Q | c.553G>C | 8:89978251 | 50.00% | 46.53% | 778 |
c – 0.00% expected VAF, not detected by variant caller
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)
We accept orders using the following methods.
Online
Our online catalog and ordering system can be used to search our full menu of available Reference Standards. Select your desired reference standards and add them to the shopping basket. Your order can be submitted instantly using credit card, telephone ordering or a purchase order number as the preferred payment method.
Offline
If you prefer to send us orders outside our online ordering system, please see the Contact Us page for telephone, fax, and email details in order to place an order. We recommend that you use our online system to identify the products you require and their respective “HD” product codes.
To order offline we will require the following information:
- Product code(s) of the item(s) you wish to order (e.g. "HD123")
- Your name, email address, title and organization
- Shipping address and billing address with contact names
- Purchase Order number if you have one
- Telephone number
- VAT Number (European Countries only)
If you’re having trouble ordering or finding what you’re looking for, or if you require something we don’t yet offer, please contact us.