Panel-Ref® BRCA1/2 Germline Mutation Cocktail I |
Cat No. | RQP90003 |
Description | It mainly contains SNVs and indels of BRCA1 and BRCA2, which are used for quality control of related kits and Panel detection services. |
| | | | | | | |
Gene | Clinical significance | Allele origin | mRNA | DNA Change | AA Change | AF | Chr position (GRCh37) |
BRCA1 | Benign | germline | NM_007300.4 | c.4837A>G | p.S1613G | 50.00% | chr17:41223157 |
BRCA1 | Benign | germline | NM_007300.4 | c.3548A>G | p.K1183R | 50.00% | chr17:41244000 |
BRCA1 | Benign | germline | NM_007300.4 | c.2612C>T | p.P871L | 100.00% | chr17:41244936 |
BRCA1 | Benign | germline | NM_007300.4 | c.2458A>G | p.K820E | 50.00% | chr17:41245090 |
BRCA1 | Benign | germline | NM_007300.4 | c.2082C>T | p.S694S | 50.00% | chr17:41245466 |
BRCA1 | Uncertain significance | germline | NM_007300.4 | c.1303G>T | p.D435Y | 50.00% | chr17:41246245 |
BRCA2 | Benign | germline | NM_000059.3 | c.865A>C | p.N289H | 50.00% | chr13:32906480 |
BRCA2 | Benign | germline | NM_000059.3 | c.2229T>C | p.H743H | 50.00% | chr13:32910721 |
BRCA2 | Benign | germline | NM_000059.3 | c.2971A>G | p.N991D | 50.00% | chr13:32911463 |
BRCA2 | Benign | germline | NM_000059.3 | c.3516G>A | p.S1172S | 50.00% | chr13:32912008 |
BRCA2 | Benign | germline | NM_000059.3 | c.3807T>C | p.V1269V | 50.00% | chr13:32912299 |
BRCA2 | Benign | germline | NM_000059.3 | c.4563A>G | p.L1521L | 100.00% | chr13:32913055 |
BRCA2 | Pathogenic | germline | NM_000059.3 | c.5345delA | p.N1784fs | 50.00% | chr13:32913843 |
BRCA2 | Benign | germline | NM_000059.3 | c.6513G>C | p.V2171V | 100.00% | chr13:32915005 |
BRCA2 | Benign | germline | NM_000059.3 | c.7397T>C | p.V2466A | 100.00% | chr13:32929387 |
BRCA2 | Uncertain Significance | germline | NM_000059.3 | c.1365A>G | p.S455S | 50.00% | chr13:32906980 |
Calibration method: 500x WES, DdPCR (partial sites) |
| | | | | | | |
Product Information |
Intended Use | Research Use Only |
Unit Size | 1ug/vial * 1 vial |
Concentration | Download for COA |
Purity | Download for COA |
DNA electrophoresis | Download for COA |
Storage | 4℃ |
Expiry | 36 months from the date of manufacture |