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

NOTCH1: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
23
✓ 둘 다 양성
31
⚠ CV=병원성 / AM=양성
2
⚠ CV=양성 / AM=병원성
7
— AM 미적재
437
AM ↔ ClinVar 비교 가능 변이 63건 중 54건 일치 / 9건 불일치 — 일치도 85.7%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A18T Benign 0.155 benign ✓ 해석 →
A2085P Likely pathogenic 0.974 pathogenic ✓ 해석 →
A465T Conflicting classifications of pathogeni 0.978 pathogenic 해석 →
A683T Conflicting classifications of pathogeni 0.071 benign 해석 →
C1094* Likely pathogenic — 미적재 해석 →
C1094Y Pathogenic 0.997 pathogenic ✓ 해석 →
C1255* Pathogenic — 미적재 해석 →
C1316* Likely pathogenic — 미적재 해석 →
C1357* Pathogenic — 미적재 해석 →
C1374F Likely pathogenic 0.976 pathogenic ✓ 해석 →
C1374R Likely pathogenic 0.990 pathogenic ✓ 해석 →
C1479Y Likely pathogenic 0.986 pathogenic ✓ 해석 →
C1496Y Pathogenic/Likely pathogenic 0.989 pathogenic ✓ 해석 →
C1528* Pathogenic — 미적재 해석 →
C182Y Likely pathogenic 0.986 pathogenic ✓ 해석 →
C359* Likely pathogenic — 미적재 해석 →
C370R Likely pathogenic 1.000 pathogenic ✓ 해석 →
C429R Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
C449R Likely pathogenic 0.999 pathogenic ✓ 해석 →
C456Y Likely pathogenic 0.999 pathogenic ✓ 해석 →
C514* Likely pathogenic — 미적재 해석 →
C704* Likely pathogenic — 미적재 해석 →
C960* Pathogenic — 미적재 해석 →
D1517H Likely pathogenic 0.981 pathogenic ✓ 해석 →
D1517N Pathogenic/Likely pathogenic 0.809 pathogenic ✓ 해석 →
D1642* Likely pathogenic — 미적재 해석 →
D1989N Conflicting classifications of pathogeni 0.324 benign 해석 →
D388N Conflicting classifications of pathogeni 0.934 pathogenic 해석 →
E1341* Pathogenic — 미적재 해석 →
E1408* Pathogenic — 미적재 해석 →
E1450* Pathogenic — 미적재 해석 →
E1555* Pathogenic — 미적재 해석 →
E1636* Likely pathogenic — 미적재 해석 →
E663* Pathogenic — 미적재 해석 →
E719* Pathogenic — 미적재 해석 →
E756* Likely pathogenic — 미적재 해석 →
E758* Pathogenic — 미적재 해석 →
E794* Pathogenic — 미적재 해석 →
E948* Likely pathogenic — 미적재 해석 →
F1592C Pathogenic 0.983 pathogenic ✓ 해석 →
F1693S Pathogenic 0.988 pathogenic ✓ 해석 →
G193D Pathogenic 0.980 pathogenic ✓ 해석 →
G200V Likely pathogenic 0.984 pathogenic ✓ 해석 →
G248R Likely pathogenic 0.984 pathogenic ✓ 해석 →
G766S Conflicting classifications of pathogeni 0.359 ambiguous 해석 →
G936S Likely benign 0.600 pathogenic ⚠ 해석 →
L2067P Likely pathogenic 0.992 pathogenic ✓ 해석 →
M1L Likely pathogenic 0.145 benign ⚠ 해석 →
N1875S Likely pathogenic 0.393 ambiguous 해석 →
N718S Conflicting classifications of pathogeni 0.118 benign 해석 →
P1377S Benign/Likely benign 0.059 benign ✓ 해석 →
P143L Conflicting classifications of pathogeni 0.571 pathogenic 해석 →
P407R Conflicting classifications of pathogeni 0.203 benign 해석 →
P649T Conflicting classifications of pathogeni 0.173 benign 해석 →
Q1106* Pathogenic — 미적재 해석 →
Q1155* Pathogenic — 미적재 해석 →
Q1286* Likely pathogenic — 미적재 해석 →
Q139* Pathogenic — 미적재 해석 →
Q1455* Pathogenic — 미적재 해석 →
Q1466* Pathogenic — 미적재 해석 →
Q1495* Pathogenic/Likely pathogenic — 미적재 해석 →
Q1687H Likely pathogenic 0.220 benign ⚠ 해석 →
Q1722* Pathogenic — 미적재 해석 →
Q1837* Likely pathogenic — 미적재 해석 →
Q184* Pathogenic — 미적재 해석 →
Q1842* Pathogenic — 미적재 해석 →
Q1923* Likely pathogenic — 미적재 해석 →
Q2307* Pathogenic — 미적재 해석 →
Q2366* Likely pathogenic — 미적재 해석 →
Q513* Pathogenic — 미적재 해석 →
Q789* Pathogenic — 미적재 해석 →
Q803* Pathogenic — 미적재 해석 →
Q846* Pathogenic — 미적재 해석 →
R1107* Pathogenic — 미적재 해석 →
R1263C Conflicting classifications of pathogeni 0.740 pathogenic 해석 →
R1984* Pathogenic — 미적재 해석 →
R365C Conflicting classifications of pathogeni 0.836 pathogenic 해석 →
R448* Pathogenic/Likely pathogenic — 미적재 해석 →
R448Q Pathogenic 0.790 pathogenic ✓ 해석 →
R56* Pathogenic — 미적재 해석 →
R902C Conflicting classifications of pathogeni 0.222 benign 해석 →
S137* Pathogenic — 미적재 해석 →
S1801* Likely pathogenic — 미적재 해석 →
S2198* Pathogenic — 미적재 해석 →
T596M Conflicting classifications of pathogeni 0.080 benign 해석 →
V1676D Likely pathogenic 0.998 pathogenic ✓ 해석 →
V1976D Likely pathogenic 0.998 pathogenic ✓ 해석 →
W1089* Pathogenic — 미적재 해석 →
W1556* Pathogenic — 미적재 해석 →
W1638* Pathogenic — 미적재 해석 →
Y1043* Pathogenic — 미적재 해석 →
Y1398* Likely pathogenic — 미적재 해석 →
Y2116* Pathogenic — 미적재 해석 →
Y291* Pathogenic — 미적재 해석 →
Y482* Likely pathogenic — 미적재 해석 →
Y527* Likely pathogenic — 미적재 해석 →
Y550* Pathogenic — 미적재 해석 →
Y550* Pathogenic — 미적재 해석 →
Y550* Pathogenic — 미적재 해석 →
Y670C Likely pathogenic 0.746 pathogenic ✓ 해석 →
Y813* Pathogenic — 미적재 해석 →
*2556Y Uncertain significance — 미적재 해석 →
A105G Conflicting classifications of pathogeni 0.216 benign 해석 →
A1105V Uncertain significance 0.492 ambiguous 해석 →
A1113V Conflicting classifications of pathogeni 0.081 benign 해석 →
A1125T Conflicting classifications of pathogeni 0.061 benign 해석 →
A1125V Conflicting classifications of pathogeni 0.078 benign 해석 →
A1135T Uncertain significance 0.076 benign 해석 →
A1135V Conflicting classifications of pathogeni 0.081 benign 해석 →
A1278T Uncertain significance 0.074 benign 해석 →
A1278V Likely benign 0.086 benign ✓ 해석 →
A1297V Uncertain significance 0.104 benign 해석 →
A12V Uncertain significance 0.122 benign 해석 →
A1325D Uncertain significance 0.946 pathogenic 해석 →
A1325T Likely benign 0.396 ambiguous 해석 →
A1329T Conflicting classifications of pathogeni 0.082 benign 해석 →
A1338V Uncertain significance 0.089 benign 해석 →
A1343T Conflicting classifications of pathogeni 0.153 benign 해석 →
A1343V Benign/Likely benign 0.168 benign ✓ 해석 →
A1349T Uncertain significance 0.077 benign 해석 →
A1349V Conflicting classifications of pathogeni 0.110 benign 해석 →
A1418T Benign 0.075 benign ✓ 해석 →
A1436S Uncertain significance 0.084 benign 해석 →
A1436V Conflicting classifications of pathogeni 0.065 benign 해석 →
A1448V Conflicting classifications of pathogeni 0.076 benign 해석 →
A1458E Uncertain significance 0.168 benign 해석 →
A1458T Conflicting classifications of pathogeni 0.074 benign 해석 →
A1458V Conflicting classifications of pathogeni 0.100 benign 해석 →
A145S Conflicting classifications of pathogeni 0.166 benign 해석 →
A145T Conflicting classifications of pathogeni 0.264 benign 해석 →
A1471E Uncertain significance 0.174 benign 해석 →
A1471G Uncertain significance 0.148 benign 해석 →
A1471S Uncertain significance 0.104 benign 해석 →
A1471T Uncertain significance 0.111 benign 해석 →
A1471V Conflicting classifications of pathogeni 0.156 benign 해석 →
A150T Conflicting classifications of pathogeni 0.149 benign 해석 →
A1512D Uncertain significance 0.202 benign 해석 →
A1524E Uncertain significance 0.081 benign 해석 →
A1524V Conflicting classifications of pathogeni 0.072 benign 해석 →
A1552T Uncertain significance 0.102 benign 해석 →
A1552V Conflicting classifications of pathogeni 0.112 benign 해석 →
A1562E Uncertain significance 0.416 ambiguous 해석 →
A1562T Uncertain significance 0.154 benign 해석 →
A1562V Uncertain significance 0.220 benign 해석 →
A1570V Likely benign 0.292 benign ✓ 해석 →
A160T Conflicting classifications of pathogeni 0.117 benign 해석 →
A1610S Conflicting classifications of pathogeni 0.074 benign 해석 →
A1610T Conflicting classifications of pathogeni 0.070 benign 해석 →
A1610V Uncertain significance 0.077 benign 해석 →
A1634T Benign 0.077 benign ✓ 해석 →
A1635T Benign 0.071 benign ✓ 해석 →
A1639T Uncertain significance 0.074 benign 해석 →
A1640S Likely benign 0.074 benign ✓ 해석 →
A1640T Conflicting classifications of pathogeni 0.068 benign 해석 →
A1640V Conflicting classifications of pathogeni 0.077 benign 해석 →
A1643G Conflicting classifications of pathogeni 0.073 benign 해석 →
A1643P Uncertain significance 0.085 benign 해석 →
A1643T Conflicting classifications of pathogeni 0.068 benign 해석 →
A1650D Uncertain significance 0.086 benign 해석 →
A1650S Uncertain significance 0.078 benign 해석 →
A16T Uncertain significance 0.184 benign 해석 →
A1701E Uncertain significance 0.705 pathogenic 해석 →
A1701T Uncertain significance 0.368 ambiguous 해석 →
A1707T Likely benign 0.236 benign ✓ 해석 →
A1732P Likely benign 0.052 benign ✓ 해석 →
A1732V Likely benign 0.079 benign ✓ 해석 →
A1740E Uncertain significance 0.818 pathogenic 해석 →
A1740S Uncertain significance 0.186 benign 해석 →
A1740T Uncertain significance 0.110 benign 해석 →
A1740V Conflicting classifications of pathogeni 0.069 benign 해석 →
A1741V Conflicting classifications of pathogeni 0.060 benign 해석 →
A1742S Conflicting classifications of pathogeni 0.180 benign 해석 →
A1742T Uncertain significance 0.106 benign 해석 →
A1742V Uncertain significance 0.072 benign 해석 →
A1743T Likely benign 0.103 benign ✓ 해석 →
A1778G Uncertain significance 0.083 benign 해석 →
A1778P Uncertain significance 0.084 benign 해석 →
A1778V Conflicting classifications of pathogeni 0.093 benign 해석 →
A1800T Conflicting classifications of pathogeni 0.068 benign 해석 →
A1804P Uncertain significance 0.126 benign 해석 →
A1851T Uncertain significance 0.607 pathogenic 해석 →
A1857G Uncertain significance 0.104 benign 해석 →
A1859V Conflicting classifications of pathogeni 0.250 benign 해석 →
A1869S Likely benign 0.074 benign ✓ 해석 →
A1869T Benign 0.064 benign ✓ 해석 →
A1906E Uncertain significance 0.221 benign 해석 →
A1906P Uncertain significance 0.120 benign 해석 →
A1906T Uncertain significance 0.070 benign 해석 →
A1906V Likely benign 0.091 benign ✓ 해석 →
A1908V Uncertain significance 0.134 benign 해석 →
A1935V Uncertain significance 0.990 pathogenic 해석 →
A1936S Uncertain significance 0.500 ambiguous 해석 →
A1944T Conflicting classifications of pathogeni 0.931 pathogenic 해석 →
A1952T Uncertain significance 0.772 pathogenic 해석 →
A1954D Uncertain significance 0.990 pathogenic 해석 →
A1967T Uncertain significance 0.188 benign 해석 →
A1967V Uncertain significance 0.340 benign 해석 →
A1968S Uncertain significance 0.581 pathogenic 해석 →
A1968V Uncertain significance 0.979 pathogenic 해석 →
A1973T Likely benign 0.863 pathogenic ⚠ 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.