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Mimix™ BRCA Germline I, gDNA Reference Standard

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 8.0

 

Product Information

Verified Mutations:

Gene Variant (AA) CDS mutation GRCh38 coordinates 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

** 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.