| Panel-Ref® BRCA1/2 Germline Mutation Cocktail II | ||||||||
| Cat No. | RQP90018 | |||||||
| 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 | Cosmic ID | Chr position (GRCh37) |
| BRCA1 | Benign | Germline | NM_007300.4 | c.4900A>G | p.S1634G | 50.00% | COSM3755559 | chr17:41223094 |
| BRCA1 | Benign | Germline | NM_007300.4 | c.4308T>C | p.S1436= | 50.00% | COSM4416374 | chr17:41234470 |
| BRCA1 | Benign | Germline | NM_007300.4 | c.3548A>G | p.K1183R | 50.00% | COSM148277 | chr17:41244000 |
| BRCA1 | Benign | Germline | NM_007300.4 | c.3113A>G | p.E1038G | 50.00% | COSM3755562 | chr17:41244435 |
| BRCA1 | Benign | Germline | NM_007300.4 | c.2612C>T | p.P871L | 50.00% | COSM148278 | chr17:41244936 |
| BRCA1 | Benign | Germline | NM_007300.4 | c.2311T>C | p.L771= | 50.00% | COSM3755565 | chr17:41245237 |
| BRCA1 | Benign | Germline | NM_007300.4 | c.2082C>T | p.S694= | 50.00% | N/A | chr17:41245466 |
| BRCA1 | Pathogenic | Germline | NM_007300.4 | c.1961del | p.K654Sfs*47 | 50.00% | COSM219054 | chr17:41245594 |
| BRCA2 | Benign | Germline | NM_000059.3 | c.3396A>G | p.K1132= | 50.00% | COSM4415775 | chr13:32911888 |
| BRCA2 | Likely_benign | Germline | NM_000059.3 | c.4314C>T | p.V1438= | 50.00% | COSM2071377 | chr13:32912806 |
| BRCA2 | Benign | Germline | NM_000059.3 | c.4563A>G | p.L1521= | 100.00% | COSM9180822 | chr13:32913055 |
| BRCA2 | Benign | Germline | NM_000059.3 | c.6513G>C | p.V2171= | 100.00% | COSM4147689 | chr13:32915005 |
| BRCA2 | Benign | Germline | NM_000059.3 | c.7242A>G | p.S2414= | 50.00% | COSM4415347 | chr13:32929232 |
| BRCA2 | Conflicting_ interpretations_of_pathogenicity | Germline | NM_000059.3 | c.7397T>C | p.V2466A | 100.00% | COSM7335572 | chr13:32929387 |
| 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°C | |||||||
| Expiry | 36 months from the date of manufacture | |||||||
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Shanghai，China
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