Mimix™ BRCA Germline II (gDNA) Reference Standard

The BRCA Germline II Reference Standard is a highly-characterized, biologically-relevant quality control material used to assess the performance of NGS assays that detect germline mutations.

BRCA Reference Standard

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

Presence confirmed in parental cell line:

Chromosome	Genomic Coordinates (GRCh37)	Gene	Variant	Expected Allelic Frequency, %	Observed with Exome Data AF %
17	41223094	BRCA1	S1634G**	0	0
17	41244000	BRCA1	K1183R	0	0
17	41245090	BRCA1	K820E	0	0
17	41234451	BRCA1	R1443STOP	0	0
17	41246245	BRCA1	D435Y	0	0
17	41244936	BRCA1	P871L	0	0
13	32906480	BRCA2	N289H	0	0
13	32929387	BRCA2	V2466A	100	100
13	32911463	BRCA2	N991D	0	0
13	32913558	BRCA2	K1691fs	0	0
13	32913836	BRCA2	N1784fs	0	0
13	32912750	BRCA2	D1420Y	0	0
13	32937354	BRCA2	I2675fs	50	61
17	59763347	BRIP1	S919P	100	100
2	215645464	BARD1	R378S	50	53.92
8	90990479	NBN	E185Q	100	100

** 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

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.