Panel-Ref® HRR-Related-28 Gene Cocktail Reference Standard

HRR-related genes：

28个:BRCA1,BRCA2,ATM,ATR,BARD1,BLM,BRIP1,CDK12,
CHEK1,CHEK2,FANCA,FANCC,FANCD2,FANCF,FANCI,
FANCL,FANCM,MRE11A,NBN,PALB2,PPP2R2A,RAD50,
RAD51B,RAD51C,RAD51D,RAD52,RAD54L和RPA1

Number of mutations:

28 genes with >250 mutations

Mutation Type:

Synonymous, missense, deletion, insertion, splicing variation, copy number variation, etc. (methylation has not been tested yet)

Clinical Notes:

Benign,Likely Benign,Uncertain Significance,Likely Pathogenic,Pathogenic

Mutation range:

0-100%

Product form:

gDNA is in stock, ctDNA and FFPE are under development

Verification method:

1.1000x WES;
2.3500x Panel;
3.DdPCR(Partial sites)

Cat. No.

CBP90044

Format

Genomic DNA

Size

1ug/vial * 1 vial

Intended Use

Research Use Only

Buffer

Tris-EDTA

Storage Conditions

2-8°C

Expiry

36 months from the date of manufacture

ATM

p.Q628fs

c.1880dupT

22.40%

21.70%

Pathogenic

ATM

p.N1983S

c.5948A>G

99.93%

N/A

Benign

ATM

p.A2843V

c.8528C>T

19.51%

N/A

Likely Pathogenic

ATR

p.R2425Q

c.7274G>A

20.82%

N/A

Benign

ATR

N/A

c.6552+5A>G

5.54%

N/A

Uncertain Significance

ATR

N/A

c.4153-11_4153-10delTT

17.00%

18.90%

Uncertain Significance

ATR

p.I774Yfs*5

c.2320delA

24.88%

N/A

Uncertain Significance

ATR

p.L711F

c.2131C>T

3.55%

N/A

Likely Benign

ATR

p.D564=

c.1692T>C

19.36%

N/A

Likely Benign

BARD1

p.A724T

c.2170G>A

11.25%

N/A

Uncertain Significance

BARD1

p.V507M

c.1519G>A

65.39%

N/A

Benign

BARD1

p.H506=

c.1518T>C

87.49%

N/A

Benign

BARD1

p.R378S

c.1134G>C

67.73%

N/A

Benign

BARD1

p.P24S

c.70C>T

65.48%

N/A

Benign

BLM

p.A603V

c.1808C>T

19.77%

N/A

Uncertain Significance

BLM

p.Q615=

c.1845A>G

21.37%

N/A

Likely Benign

BLM

p.H660Qfs*2

c.1979dupA

22.32%

21.70%

Pathogenic

BLM

p.G921=

c.2763C>T

17.63%

N/A

Likely Benign

BLM

p.T1034=

c.3102G>A

41.77%

N/A

Benign

BLM

p.A1177=

c.3531C>A

39.14%

N/A

Benign

BLM

p.L1315=

c.3945C>T

42.43%

N/A

Benign

BRCA1

p.S663N

c.1988G>A

20.06%

N/A

Uncertain Significance

BRCA1

p.S1634G

c.4900A>G

63.98%

59.90%

Benign

BRCA1

p.S1436=

c.4308T>C

60.76%

N/A

Benign

BRCA1

p.K1183R

c.3548A>G

61.42%

62.70%

Benign

BRCA1

p.E1038G

c.3113A>G

66.25%

N/A

Benign

BRCA1

p.P871L

c.2612C>T

70.89%

70.70%

Benign

BRCA1

p.L771=

c.2311T>C

66.45%

N/A

Benign

BRCA1

p.S694=

c.2082C>T

64.64%

61.90%

Benign

BRCA2

p.A487V

c.1460C>T

19.13%

21.20%

Uncertain Significance

BRCA2

p.N289H

c.865A>C

39.45%

42.30%

Benign

BRCA2

p.S455=

c.1365A>G

44.47%

42.10%

Benign

BRCA2

N/A

c.1909+2T>C

19.93%

21.00%

Pathogenic

BRCA2

p.H743=

c.2229T>C

44.94%

N/A

Benign

BRCA2

p.N991D

c.2971A>G

42.44%

42.70%

Benign

BRCA2

p.N1287Ifs*6

c.3860delA

20.29%

21.00%

Pathogenic

BRCA2

p.D1476G

c.4427A>G

20.94%

20.20%

Likely Pathogenic

BRCA2

p.L1521=

c.4563A>G

100.00%

N/A

Benign

BRCA2

p.R2784Q

c.8351G>A

19.35%

19.60%

Pathogenic

BRCA2

p.V2014E

c.6041T>A

20.34%

N/A

Likely Pathogenic

BRCA2

p.V2171=

c.6513G>C

100.00%

N/A

Benign

BRCA2

p.V2466A

c.7397T>C

99.93%

100.00%

Benign

BRCA2

p.Q2934*

c.8800C>T

20.85%

21.40%

Pathogenic

BRIP1

p.N933I

c.2798A>T

17.19%

N/A

Uncertain Significance

BRIP1

p.E879=

c.2637A>G

100.00%

N/A

Benign

CDK12

p.R300K

c.899G>A

20.66%

N/A

Uncertain Significance

CDK12

p.I873N

c.2618T>A

21.51%

N/A

Uncertain Significance

CHEK1

p.Y390=

c.1170T>C

19.17%

N/A

Likely Benign

CHEK1

p.I471V

c.1411A>G

100.00%

N/A

Benign

CHEK2

N/A

c.721+2T>C

20.41%

21.80%

Pathogenic

CHEK2

p.R188W

c.562C>T

20.76%

20.80%

Pathogenic

FANCA

p.P1218=

c.3654A>G

24.45%

N/A

Benign

FANCA

N/A

c.3067-4T>C

23.56%

N/A

Benign

FANCA

p.S967=

c.2901C>T

22.71%

N/A

Benign

FANCA

N/A

c.2779-7T>C

21.82%

N/A

Benign

FANCA

p.P643A

c.1927C>G

15.81%

N/A

Benign

FANCA

p.G501S

c.1501G>A

67.88%

N/A

Benign

FANCA

p.T381=

c.1143G>T

22.18%

N/A

Benign

FANCA

N/A

c.894-8A>G

24.39%

N/A

Benign

FANCA

p.S208L

c.623C>T

24.07%

N/A

Uncertain Significance

FANCC

p.G307V

c.920G>T

20.92%

N/A

Uncertain Significance

FANCC

p.A158V

c.473C>T

18.75%

N/A

Likely Benign

FANCC

p.S156=

c.468A>G

18.39%

N/A

Likely Benign

FANCF

p.L111=

c.331C>T

3.45%

N/A

Likely Benign

FANCI

p.K849=

c.2547G>A

100.00%

N/A

Benign

FANCL

p.A299T

c.895G>A

19.97%

N/A

Likely Benign

FANCL

N/A

c.791-10delT

22.98%

N/A

Uncertain Significance

FANCM

p.L42=

c.126G>A

2.39%

N/A

Likely Benign

FANCM

N/A

c.1788+6T>C

22.34%

N/A

Uncertain Significance

FANCM

p.V878L

c.2632G>T

44.96%

N/A

Benign

FANCM

p.Q1333Tfs*11

c.3996_3997insA

16.52%

N/A

Likely Pathogenic

FANCM

p.S1949T

c.5845T>A

22.68%

21.00%

Uncertain Significance

FANCM

p.M2010V

c.6028A>G

21.53%

21.20%

Uncertain Significance

MRE11A

N/A

c.1867+6T>C

19.94%

N/A

Uncertain Significance

MRE11A

N/A

c.315-5_315-4delTT

38.89%

N/A

Uncertain Significance

NBN

N/A

c.1398-10delT

20.05%

N/A

Uncertain Significance

NBN

p.L34=

c.102G>A

41.94%

N/A

Benign

NBN

N/A

c.38-10_38-9insA

14.76%

N/A

Uncertain Significance

PALB2

p.G808*

c.2422G>T

17.58%

20.80%

Pathogenic

PPP2R2A

p.C249Y

c.746G>A

18.13%

N/A

Uncertain Significance

RAD50

p.K722Rfs*14

c.2165delA

19.49%

N/A

Pathogenic

RAD51B

p.R348G

c.1042A>G

23.42%

N/A

Likely Benign

RAD51C

p.T287A

c.859A>G

19.52%

N/A

Benign

RAD51D

p.V66=

c.198G>T

20.14%

N/A

Likely Benign

RAD52

p.R253C

c.757C>T

22.43%

N/A

Uncertain Significance

RAD52

N/A

c.348+7_348+8insA

29.60%

N/A

Uncertain Significance

RAD54L

p.R587W

c.1759C>T

21.40%

N/A

Likely Benign

RPA1

p.A128V

c.383C>T

18.76%

N/A

Uncertain Significance

RPA1

p.S352=

c.1056C>T

43.54%

N/A

Benign

RPA1

p.E363Kfs*60

c.1087delG

21.20%

N/A

Pathogenic

RPA1

p.S535=

c.1605T>C

40.91%

N/A

Benign