| Panel-Ref® BRCA1/2 Germline Mutation Cocktail III | ||||||||
| Cat No. | CBP90025 | |||||||
| Description | 主要包含BRCA1和BRCA2的SNV和indel，用于相關的試劑盒和Panel檢測服務的質控。 | |||||||
| 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 | 100.00% | COSM3755559 | chr17:41223094 |
| BRCA1 | Benign | Germline | NM_007300.4 | c.4308T>C | p.S1436= | 100.00% | COSM4416374 | chr17:41234470 |
| BRCA1 | Uncertain Significance | Germline | NM_007300.4 | c.3569C>A | p.P1190H | 50.00% | COSM3190048 | chr17:41243979 |
| BRCA1 | Benign | Germline | NM_007300.4 | c.3548A>G | p.K1183R | 100.00% | COSM148277 | chr17:41244000 |
| BRCA1 | Benign | Germline | NM_007300.4 | c.3113A>G | p.E1038G | 100.00% | COSM3755562 | chr17:41244435 |
| BRCA1 | Benign | Germline | NM_007300.4 | c.2612C>T | p.P871L | 100.00% | COSM148278 | chr17:41244936 |
| BRCA1 | Benign | Germline | NM_007300.4 | c.2311T>C | p.L771= | 100.00% | COSM3755565 | chr17:41245237 |
| BRCA1 | Benign | Germline | NM_007300.4 | c.2082C>T | p.S694= | 100.00% | N/A | chr17:41245466 |
| BRCA1 | Uncertain Significance | Germline | NM_007300.4 | c.1988G>A | p.S663N | 50.00% | COSM3190090 | chr17:41245560 |
| BRCA2 | Benign | Germline | NM_000059.3 | c.865A>C | p.N289H | 50.00% | COSM3999066 | chr13:32906480 |
| BRCA2 | Uncertain Significance | Germline | NM_000059.3 | c.1365A>G | p.S455= | 50.00% | COSM3999068 | chr13:32906980 |
| BRCA2 | Uncertain Significance | Germline | NM_000059.3 | c.1460C>T | p.A487V | 50.00% | N/A | chr13:32907075 |
| BRCA2 | Benign | Germline | NM_000059.3 | c.2229T>C | p.H743= | 50.00% | COSM5019762 | chr13:32910721 |
| BRCA2 | Benign | Germline | NM_000059.3 | c.2971A>G | p.N991D | 50.00% | COSM4986759 | chr13:32911463 |
| BRCA2 | Benign | Germline | NM_000059.3 | c.3396A>G | p.K1132= | 50.00% | COSM4415775 | chr13:32911888 |
| BRCA2 | Pathogenic | Germline | NM_000059.3 | c.3599_3600del | p.C1200* | 50.00% | COSM18623 | chr13:32912091 |
| BRCA2 | Benign | Germline | NM_000059.3 | c.4068G>A | p.L1356= | 50.00% | COSM9213155 | chr13:32912560 |
| BRCA2 | Benign | Germline | NM_000059.3 | c.4563A>G | p.L1521= | 100.00% | COSM9180822 | chr13:32913055 |
| BRCA2 | Pathogenic | Germline | NM_000059.3 | c.5351del | p.N1784Tfs*7 | 50.00% | COSM18607 | N/A |
| BRCA2 | Benign | Germline | NM_000059.3 | c.6513G>C | p.V2171= | 100.00% | COSM4147689 | chr13:32915005 |
| BRCA2 | Benign | Germline | NM_000059.3 | c.7397T>C | p.V2466A | 100.00% | COSM7335572 | chr13:32929387 |
| BRCA2 | Likely Pathogenic | Germline | NM_000059.3 | c.8351G>A | p.R2784Q | 50.00% | N/A | chr13:32944558 |
| 定標方法：500x WES、DdPCR(部分位點) | ||||||||
| 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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