ClinVar 임상 비교

AlphaMissense AI 예측 vs ClinVar 실제 임상 분류 — 일치/불일치 분석

전체 일치도 대시보드 ClinVar
ClinVar 변이 (서브셋)
319,822
우리 보유 유전자만
커버 유전자
308
병원성/가능 변이
56,770
AM과 교차 가능
154,518
단백질 변이 추출
유전자별 AM 예측 vs ClinVar 임상 분류 일치도

PIK3CA: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
73
✓ 둘 다 양성
5
⚠ CV=병원성 / AM=양성
7
⚠ CV=양성 / AM=병원성
1
— AM 미적재
414
AM ↔ ClinVar 비교 가능 변이 86건 중 78건 일치 / 8건 불일치 — 일치도 90.7%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A1035T Pathogenic 0.996 pathogenic ✓ 해석 →
A1035V Pathogenic 0.998 pathogenic ✓ 해석 →
A1066V Conflicting classifications of pathogeni 0.188 benign 해석 →
C378R Pathogenic 0.993 pathogenic ✓ 해석 →
C378Y Pathogenic 0.948 pathogenic ✓ 해석 →
C420R Pathogenic 0.980 pathogenic ✓ 해석 →
C604R Conflicting classifications of pathogeni 0.986 pathogenic 해석 →
C901F Likely pathogenic 0.998 pathogenic ✓ 해석 →
D350G Pathogenic 0.975 pathogenic ✓ 해석 →
D350N Pathogenic/Likely pathogenic 0.936 pathogenic ✓ 해석 →
D725N Likely pathogenic 0.390 ambiguous 해석 →
D91N Pathogenic 0.988 pathogenic ✓ 해석 →
D939G Pathogenic/Likely pathogenic 0.770 pathogenic ✓ 해석 →
E135K Pathogenic 0.988 pathogenic ✓ 해석 →
E218K Pathogenic 0.539 ambiguous 해석 →
E365K Pathogenic 0.921 pathogenic ✓ 해석 →
E39K Likely pathogenic 0.975 pathogenic ✓ 해석 →
E418K Pathogenic 0.967 pathogenic ✓ 해석 →
E453K Pathogenic 0.909 pathogenic ✓ 해석 →
E542A Pathogenic 0.869 pathogenic ✓ 해석 →
E542G Likely pathogenic 0.830 pathogenic ✓ 해석 →
E542K Pathogenic 0.941 pathogenic ✓ 해석 →
E542Q Pathogenic 0.815 pathogenic ✓ 해석 →
E545A Pathogenic 0.967 pathogenic ✓ 해석 →
E545D Pathogenic 0.867 pathogenic ✓ 해석 →
E545G Pathogenic 0.939 pathogenic ✓ 해석 →
E545K Pathogenic/Likely pathogenic 0.988 pathogenic ✓ 해석 →
E545K Pathogenic 0.988 pathogenic ✓ 해석 →
E600K Pathogenic 0.969 pathogenic ✓ 해석 →
E726K Pathogenic 0.647 pathogenic ✓ 해석 →
E81K Pathogenic 0.962 pathogenic ✓ 해석 →
E970K Pathogenic/Likely pathogenic 0.529 ambiguous 해석 →
F83S Pathogenic 0.936 pathogenic ✓ 해석 →
F909L Pathogenic 1.000 pathogenic ✓ 해석 →
G1049C Likely pathogenic 0.870 pathogenic ✓ 해석 →
G1049S Pathogenic 0.736 pathogenic ✓ 해석 →
G1050S Likely pathogenic 0.529 ambiguous 해석 →
G106C Likely pathogenic 0.959 pathogenic ✓ 해석 →
G106V Conflicting classifications of pathogeni 0.982 pathogenic 해석 →
G118D Pathogenic 0.989 pathogenic ✓ 해석 →
G364R Pathogenic/Likely pathogenic 0.909 pathogenic ✓ 해석 →
G451V Conflicting classifications of pathogeni 0.780 pathogenic 해석 →
G914R Pathogenic 0.996 pathogenic ✓ 해석 →
G914R Pathogenic 0.996 pathogenic ✓ 해석 →
H1047L Pathogenic 0.438 ambiguous 해석 →
H1047R Pathogenic 0.538 ambiguous 해석 →
H1047Y Pathogenic 0.230 benign ⚠ 해석 →
H1048R Pathogenic/Likely pathogenic 0.197 benign ⚠ 해석 →
H1065Y Pathogenic 0.201 benign ⚠ 해석 →
I112N Likely pathogenic 0.759 pathogenic ✓ 해석 →
I273M Likely pathogenic 0.212 benign ⚠ 해석 →
I841V Conflicting classifications of pathogeni 0.090 benign 해석 →
K111E Conflicting classifications of pathogeni 0.979 pathogenic 해석 →
K111N Likely pathogenic 0.983 pathogenic ✓ 해석 →
L632* Pathogenic — 미적재 해석 →
L866W Likely pathogenic 0.842 pathogenic ✓ 해석 →
M1004I Pathogenic/Likely pathogenic 0.983 pathogenic ✓ 해석 →
M1004V Conflicting classifications of pathogeni 0.723 pathogenic 해석 →
M1040I Pathogenic 0.569 pathogenic ✓ 해석 →
M1043I Pathogenic 0.961 pathogenic ✓ 해석 →
M1043I Pathogenic/Likely pathogenic 0.961 pathogenic ✓ 해석 →
M1043L Likely pathogenic 0.435 ambiguous 해석 →
N1044K Uncertain significance 0.801 pathogenic 해석 →
N1044S Pathogenic 0.187 benign ⚠ 해석 →
N345K Pathogenic 0.997 pathogenic ✓ 해석 →
N345S Pathogenic 0.744 pathogenic ✓ 해석 →
N345T Pathogenic 0.928 pathogenic ✓ 해석 →
N920D Likely pathogenic 1.000 pathogenic ✓ 해석 →
P104L Pathogenic/Likely pathogenic 0.943 pathogenic ✓ 해석 →
P449L Pathogenic/Likely pathogenic 0.830 pathogenic ✓ 해석 →
P449S Pathogenic/Likely pathogenic 0.773 pathogenic ✓ 해석 →
P449T Pathogenic/Likely pathogenic 0.768 pathogenic ✓ 해석 →
P539R Likely pathogenic 0.969 pathogenic ✓ 해석 →
Q546E Likely pathogenic 0.515 ambiguous 해석 →
Q546K Pathogenic 0.885 pathogenic ✓ 해석 →
Q546L Likely pathogenic 0.849 pathogenic ✓ 해석 →
Q546P Likely pathogenic 0.897 pathogenic ✓ 해석 →
Q546P Pathogenic/Likely pathogenic 0.897 pathogenic ✓ 해석 →
Q546R Pathogenic 0.939 pathogenic ✓ 해석 →
R108C Likely pathogenic 0.800 pathogenic ✓ 해석 →
R108H Pathogenic/Likely pathogenic 0.588 pathogenic ✓ 해석 →
R115L Conflicting classifications of pathogeni 0.870 pathogenic 해석 →
R115P Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
R382K Conflicting classifications of pathogeni 0.238 benign 해석 →
R38H Likely pathogenic 0.957 pathogenic ✓ 해석 →
R88Q Pathogenic 0.881 pathogenic ✓ 해석 →
R93Q Pathogenic 0.642 pathogenic ✓ 해석 →
R93W Pathogenic/Likely pathogenic 0.880 pathogenic ✓ 해석 →
T1025A Pathogenic/Likely pathogenic 0.820 pathogenic ✓ 해석 →
T1025N Likely pathogenic 0.903 pathogenic ✓ 해석 →
T1025S Likely pathogenic 0.876 pathogenic ✓ 해석 →
T1052K Likely pathogenic 0.849 pathogenic ✓ 해석 →
V151A Likely pathogenic 0.251 benign ⚠ 해석 →
V344G Likely pathogenic 0.985 pathogenic ✓ 해석 →
V344M Pathogenic 0.980 pathogenic ✓ 해석 →
V346G Likely pathogenic 0.962 pathogenic ✓ 해석 →
V356I Pathogenic 0.164 benign ⚠ 해석 →
Y1021C Pathogenic 0.983 pathogenic ✓ 해석 →
Y1021H Pathogenic/Likely pathogenic 0.989 pathogenic ✓ 해석 →
A1027V Uncertain significance 0.894 pathogenic 해석 →
A150V Uncertain significance 0.176 benign 해석 →
A333S Uncertain significance 0.066 benign 해석 →
A333V Uncertain significance 0.085 benign 해석 →
A399T Uncertain significance 0.584 pathogenic 해석 →
A415V Uncertain significance 0.319 benign 해석 →
A423T Uncertain significance 0.920 pathogenic 해석 →
A442P Uncertain significance 0.562 ambiguous 해석 →
A442T Uncertain significance 0.217 benign 해석 →
A511T Uncertain significance 0.067 benign 해석 →
A518G Uncertain significance 0.132 benign 해석 →
A533G Uncertain significance 0.107 benign 해석 →
A533T Uncertain significance 0.073 benign 해석 →
A598D Uncertain significance 0.997 pathogenic 해석 →
A615S Uncertain significance 0.393 ambiguous 해석 →
A657V Uncertain significance 0.957 pathogenic 해석 →
A694S Uncertain significance 0.166 benign 해석 →
A694T Uncertain significance 0.711 pathogenic 해석 →
A694V Uncertain significance 0.866 pathogenic 해석 →
A747T Uncertain significance 0.179 benign 해석 →
A758T Uncertain significance 0.127 benign 해석 →
A893V Uncertain significance 0.934 pathogenic 해석 →
A968G Uncertain significance 0.126 benign 해석 →
A987S Uncertain significance 0.742 pathogenic 해석 →
A987T Uncertain significance 0.995 pathogenic 해석 →
A990G Uncertain significance 0.550 ambiguous 해석 →
C147G Uncertain significance 0.625 pathogenic 해석 →
C215R Uncertain significance 0.497 ambiguous 해석 →
C215Y Uncertain significance 0.128 benign 해석 →
C255Y Uncertain significance 0.999 pathogenic 해석 →
C301G Uncertain significance 0.059 benign 해석 →
C340R Uncertain significance 0.973 pathogenic 해석 →
C368R Uncertain significance 0.989 pathogenic 해석 →
C368S Uncertain significance 0.673 pathogenic 해석 →
C368W Uncertain significance 0.988 pathogenic 해석 →
C368Y Uncertain significance 0.983 pathogenic 해석 →
C420W Uncertain significance 0.938 pathogenic 해석 →
C472R Uncertain significance 0.907 pathogenic 해석 →
C838S Uncertain significance 0.993 pathogenic 해석 →
C844R Uncertain significance 0.233 benign 해석 →
C90R Uncertain significance 0.990 pathogenic 해석 →
C971G Uncertain significance 0.152 benign 해석 →
D1017V Uncertain significance 0.978 pathogenic 해석 →
D1045E Uncertain significance 0.315 benign 해석 →
D1045N Uncertain significance 0.560 ambiguous 해석 →
D129G Uncertain significance 0.615 pathogenic 해석 →
D129Y Uncertain significance 0.792 pathogenic 해석 →
D152V Uncertain significance 0.162 benign 해석 →
D155E Uncertain significance 0.134 benign 해석 →
D155G Uncertain significance 0.129 benign 해석 →
D155H Uncertain significance 0.271 benign 해석 →
D186G Uncertain significance 0.498 ambiguous 해석 →
D258A Uncertain significance 0.875 pathogenic 해석 →
D300E Uncertain significance 0.132 benign 해석 →
D352V Uncertain significance 0.988 pathogenic 해석 →
D431V Uncertain significance 0.983 pathogenic 해석 →
D434E Uncertain significance 0.302 benign 해석 →
D478G Uncertain significance 0.404 ambiguous 해석 →
D478V Uncertain significance 0.563 ambiguous 해석 →
D478Y Uncertain significance 0.599 pathogenic 해석 →
D520E Uncertain significance 0.141 benign 해석 →
D527E Uncertain significance 0.118 benign 해석 →
D527G Uncertain significance 0.445 ambiguous 해석 →
D538E Uncertain significance 0.977 pathogenic 해석 →
D578G Uncertain significance 0.835 pathogenic 해석 →
D589G Uncertain significance 0.203 benign 해석 →
D603N Uncertain significance 0.946 pathogenic 해석 →
D608E Uncertain significance 0.960 pathogenic 해석 →
D625N Uncertain significance 0.244 benign 해석 →
D626N not provided 0.590 pathogenic 해석 →
D717E Uncertain significance 0.223 benign 해석 →
D717E Uncertain significance 0.223 benign 해석 →
D717V Uncertain significance 0.548 ambiguous 해석 →
D717Y Uncertain significance 0.640 pathogenic 해석 →
D746N Uncertain significance 0.303 benign 해석 →
D830V Uncertain significance 0.988 pathogenic 해석 →
D883N Uncertain significance 0.212 benign 해석 →
D895E Uncertain significance 0.477 ambiguous 해석 →
D926N Uncertain significance 0.092 benign 해석 →
E1037D Uncertain significance 0.067 benign 해석 →
E109D Uncertain significance 0.376 ambiguous 해석 →
E109K Uncertain significance 0.688 pathogenic 해석 →
E172D Uncertain significance 0.574 pathogenic 해석 →
E223G Uncertain significance 0.785 pathogenic 해석 →
E223K Uncertain significance 0.887 pathogenic 해석 →
E23D Uncertain significance 0.063 benign 해석 →
E263G Conflicting classifications of pathogeni 0.165 benign 해석 →
E35Q Uncertain significance 0.198 benign 해석 →
E385A Uncertain significance 0.759 pathogenic 해석 →
E385K Uncertain significance 0.878 pathogenic 해석 →
E474D Uncertain significance 0.774 pathogenic 해석 →
E476K Uncertain significance 0.939 pathogenic 해석 →
E494D Uncertain significance 0.071 benign 해석 →
E494D Uncertain significance 0.071 benign 해석 →
E494G Uncertain significance 0.276 benign 해석 →
E494Q Uncertain significance 0.241 benign 해석 →
E529D Uncertain significance 0.093 benign 해석 →
E52Q Uncertain significance 0.291 benign 해석 →
E545Q drug response 0.954 pathogenic 해석 →
E563D Uncertain significance 0.096 benign 해석 →
E563K Uncertain significance 0.426 ambiguous 해석 →

AM 임계: 병원성 ≥ 0.564, 양성 < 0.34 (AlphaMissense 권장 컷오프, Cheng et al. Science 2023)

📚 데이터: NCBI ClinVar variant_summary (GRCh38, 최근 다운로드) + 우리 유전자 서브셋만 추출.