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

NSD1: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
164
✓ 둘 다 양성
25
⚠ CV=병원성 / AM=양성
3
⚠ CV=양성 / AM=병원성
0
— AM 미적재
308
AM ↔ ClinVar 비교 가능 변이 192건 중 189건 일치 / 3건 불일치 — 일치도 98.4%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A1728P Pathogenic 0.999 pathogenic ✓ 해석 →
A1772P Likely pathogenic 1.000 pathogenic ✓ 해석 →
A1837D Likely pathogenic 0.999 pathogenic ✓ 해석 →
A1837P Pathogenic 0.999 pathogenic ✓ 해석 →
A1841P Likely pathogenic 1.000 pathogenic ✓ 해석 →
A1927D Likely pathogenic 0.995 pathogenic ✓ 해석 →
A24S Likely pathogenic 0.134 benign ⚠ 해석 →
A329T Likely pathogenic 0.970 pathogenic ✓ 해석 →
C1586R Likely pathogenic 1.000 pathogenic ✓ 해석 →
C1596R Pathogenic 0.999 pathogenic ✓ 해석 →
C1596S Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
C1596Y Likely pathogenic 0.999 pathogenic ✓ 해석 →
C1606Y Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
C1611R Likely pathogenic 1.000 pathogenic ✓ 해석 →
C1611Y Pathogenic 1.000 pathogenic ✓ 해석 →
C1619G Pathogenic 0.996 pathogenic ✓ 해석 →
C1619S Pathogenic 0.999 pathogenic ✓ 해석 →
C1635G Likely pathogenic 0.994 pathogenic ✓ 해석 →
C1640S Likely pathogenic 1.000 pathogenic ✓ 해석 →
C1640Y Pathogenic 1.000 pathogenic ✓ 해석 →
C1643S Pathogenic 0.997 pathogenic ✓ 해석 →
C1674Y Likely pathogenic 1.000 pathogenic ✓ 해석 →
C1689F Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
C1689S Likely pathogenic 1.000 pathogenic ✓ 해석 →
C1710F Likely pathogenic 1.000 pathogenic ✓ 해석 →
C1733F Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
C1733Y Likely pathogenic 1.000 pathogenic ✓ 해석 →
C1895R Likely pathogenic 1.000 pathogenic ✓ 해석 →
C1895W Pathogenic 1.000 pathogenic ✓ 해석 →
C1895Y Pathogenic 1.000 pathogenic ✓ 해석 →
C1905G Likely pathogenic 0.999 pathogenic ✓ 해석 →
C1905S Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
C1911* Likely pathogenic — 미적재 해석 →
C1920R Likely pathogenic 1.000 pathogenic ✓ 해석 →
C1920S Likely pathogenic 1.000 pathogenic ✓ 해석 →
C1920S Pathogenic 1.000 pathogenic ✓ 해석 →
C1935* Pathogenic — 미적재 해석 →
C2027S Likely pathogenic 0.999 pathogenic ✓ 해석 →
C2070G Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
C2070R Likely pathogenic 1.000 pathogenic ✓ 해석 →
C2072W Likely pathogenic 1.000 pathogenic ✓ 해석 →
C2121F Likely pathogenic 1.000 pathogenic ✓ 해석 →
C2121Y Likely pathogenic 1.000 pathogenic ✓ 해석 →
C2138R Likely pathogenic 1.000 pathogenic ✓ 해석 →
C2138S Pathogenic 1.000 pathogenic ✓ 해석 →
C2138Y Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
C2146R Likely pathogenic 1.000 pathogenic ✓ 해석 →
C2146S Pathogenic 1.000 pathogenic ✓ 해석 →
C2146Y Pathogenic 1.000 pathogenic ✓ 해석 →
C2159R Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
C2159S Pathogenic 1.000 pathogenic ✓ 해석 →
C2159Y Pathogenic 1.000 pathogenic ✓ 해석 →
C2164R Pathogenic 1.000 pathogenic ✓ 해석 →
C2167* Pathogenic — 미적재 해석 →
C2167R Pathogenic 1.000 pathogenic ✓ 해석 →
C2167Y Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
C2175F Likely pathogenic 1.000 pathogenic ✓ 해석 →
C2175S Likely pathogenic 1.000 pathogenic ✓ 해석 →
C2178F Likely pathogenic 1.000 pathogenic ✓ 해석 →
C2178R Likely pathogenic 1.000 pathogenic ✓ 해석 →
C2183G Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
C2183S Likely pathogenic 1.000 pathogenic ✓ 해석 →
C2183S Pathogenic 1.000 pathogenic ✓ 해석 →
C2202F Likely pathogenic 1.000 pathogenic ✓ 해석 →
C2202S Pathogenic 1.000 pathogenic ✓ 해석 →
C2202Y Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
C2508Y Likely pathogenic 0.065 benign ⚠ 해석 →
D1819G Likely pathogenic 0.999 pathogenic ✓ 해석 →
D1824G Likely pathogenic 0.944 pathogenic ✓ 해석 →
D2119G Pathogenic/Likely pathogenic 0.994 pathogenic ✓ 해석 →
D2119N Conflicting classifications of pathogeni 0.981 pathogenic 해석 →
D2126V Pathogenic 0.998 pathogenic ✓ 해석 →
D2165* Likely pathogenic — 미적재 해석 →
E1051* Likely pathogenic — 미적재 해석 →
E1184* Pathogenic — 미적재 해석 →
E1314* Likely pathogenic — 미적재 해석 →
E1353* Pathogenic — 미적재 해석 →
E1585* Pathogenic — 미적재 해석 →
E1715* Pathogenic — 미적재 해석 →
E1966* Likely pathogenic — 미적재 해석 →
E1970D Likely pathogenic 0.999 pathogenic ✓ 해석 →
E1980* Pathogenic — 미적재 해석 →
E2053* Pathogenic — 미적재 해석 →
E2053A Likely pathogenic 0.996 pathogenic ✓ 해석 →
E2120* Pathogenic — 미적재 해석 →
E2158* Pathogenic — 미적재 해석 →
E2214K Conflicting classifications of pathogeni 0.970 pathogenic 해석 →
E2217D Pathogenic 0.969 pathogenic ✓ 해석 →
E2284* Pathogenic — 미적재 해석 →
E2564* Pathogenic — 미적재 해석 →
E653* Pathogenic — 미적재 해석 →
F2043S Pathogenic 1.000 pathogenic ✓ 해석 →
F2122L Likely pathogenic 1.000 pathogenic ✓ 해석 →
F568* Pathogenic — 미적재 해석 →
G1589R Likely pathogenic 0.992 pathogenic ✓ 해석 →
G1656C Pathogenic 0.981 pathogenic ✓ 해석 →
G1716R Pathogenic 1.000 pathogenic ✓ 해석 →
G1717R Likely pathogenic 1.000 pathogenic ✓ 해석 →
G1717S Likely pathogenic 0.992 pathogenic ✓ 해석 →
G1765* Likely pathogenic — 미적재 해석 →
G1792E Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
G1792R Likely pathogenic 0.999 pathogenic ✓ 해석 →
G1800R Likely pathogenic 1.000 pathogenic ✓ 해석 →
G1953A Pathogenic 0.999 pathogenic ✓ 해석 →
G1953V Likely pathogenic 0.999 pathogenic ✓ 해석 →
G1973D Likely pathogenic 1.000 pathogenic ✓ 해석 →
G1973R Pathogenic 1.000 pathogenic ✓ 해석 →
G1973V Likely pathogenic 1.000 pathogenic ✓ 해석 →
G2010D Likely pathogenic 1.000 pathogenic ✓ 해석 →
G2010V Likely pathogenic 0.999 pathogenic ✓ 해석 →
G2066* Pathogenic — 미적재 해석 →
G2155R Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
G2216E Likely pathogenic 0.994 pathogenic ✓ 해석 →
G388V Pathogenic 0.998 pathogenic ✓ 해석 →
G625* Pathogenic — 미적재 해석 →
H1591Y Pathogenic 0.992 pathogenic ✓ 해석 →
H1616Q Likely pathogenic 0.992 pathogenic ✓ 해석 →
H1616R Pathogenic 0.991 pathogenic ✓ 해석 →
H1638R Conflicting classifications of pathogeni 0.995 pathogenic 해석 →
H1638Y Pathogenic/Likely pathogenic 0.987 pathogenic ✓ 해석 →
H1692R Pathogenic 0.997 pathogenic ✓ 해석 →
H1730Q Pathogenic 1.000 pathogenic ✓ 해석 →
H1872Q Likely pathogenic 0.956 pathogenic ✓ 해석 →
H2143Q Pathogenic 1.000 pathogenic ✓ 해석 →
H2162P Likely pathogenic 1.000 pathogenic ✓ 해석 →
H2162Q Likely pathogenic 1.000 pathogenic ✓ 해석 →
H2186R Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
H2205P Likely pathogenic 0.999 pathogenic ✓ 해석 →
H2205R Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
H2205Y Likely pathogenic 0.998 pathogenic ✓ 해석 →
I1774N Pathogenic 0.999 pathogenic ✓ 해석 →
I1912M Likely pathogenic 0.963 pathogenic ✓ 해석 →
I1962T Pathogenic 0.994 pathogenic ✓ 해석 →
I1976K Likely pathogenic 1.000 pathogenic ✓ 해석 →
I1976T Pathogenic/Likely pathogenic 0.990 pathogenic ✓ 해석 →
I2007F Likely pathogenic 0.999 pathogenic ✓ 해석 →
I2007T Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
I2394V Likely pathogenic 0.060 benign ⚠ 해석 →
K1172* Pathogenic — 미적재 해석 →
K1551* Pathogenic — 미적재 해석 →
K1631R Conflicting classifications of pathogeni 0.096 benign 해석 →
K1753* Pathogenic — 미적재 해석 →
K1786* Likely pathogenic — 미적재 해석 →
K1938* Pathogenic — 미적재 해석 →
K2003E Likely pathogenic 0.997 pathogenic ✓ 해석 →
K2012R Uncertain significance 0.646 pathogenic 해석 →
K2086* Likely pathogenic — 미적재 해석 →
K2097E Likely pathogenic 0.940 pathogenic ✓ 해석 →
K2106* Pathogenic — 미적재 해석 →
K2140E Likely pathogenic 1.000 pathogenic ✓ 해석 →
K2595* Pathogenic — 미적재 해석 →
K403* Likely pathogenic — 미적재 해석 →
K512* Pathogenic — 미적재 해석 →
K606* Pathogenic — 미적재 해석 →
K832* Pathogenic — 미적재 해석 →
K954* Pathogenic — 미적재 해석 →
L1097* Pathogenic — 미적재 해석 →
L1190* Pathogenic — 미적재 해석 →
L1234* Pathogenic — 미적재 해석 →
L1552* Pathogenic — 미적재 해석 →
L1682P Likely pathogenic 0.997 pathogenic ✓ 해석 →
L1734P Likely pathogenic 1.000 pathogenic ✓ 해석 →
L1797P Likely pathogenic 0.999 pathogenic ✓ 해석 →
L1950* Pathogenic — 미적재 해석 →
L1999P Likely pathogenic 1.000 pathogenic ✓ 해석 →
L2042R Pathogenic 1.000 pathogenic ✓ 해석 →
L2060Q Likely pathogenic 1.000 pathogenic ✓ 해석 →
L418* Pathogenic — 미적재 해석 →
L712* Pathogenic — 미적재 해석 →
L812* Pathogenic — 미적재 해석 →
L872* Pathogenic — 미적재 해석 →
L998* Pathogenic — 미적재 해석 →
M1787V Pathogenic 0.884 pathogenic ✓ 해석 →
N1913I Likely pathogenic 0.998 pathogenic ✓ 해석 →
N1913S Pathogenic 0.970 pathogenic ✓ 해석 →
N1933S Likely pathogenic 0.992 pathogenic ✓ 해석 →
N2020H Likely pathogenic 0.999 pathogenic ✓ 해석 →
N2020S Pathogenic 0.995 pathogenic ✓ 해석 →
N2020Y Likely pathogenic 0.998 pathogenic ✓ 해석 →
N2057S Pathogenic 0.937 pathogenic ✓ 해석 →
P1665L Pathogenic 0.995 pathogenic ✓ 해석 →
P1690R Conflicting classifications of pathogeni 0.993 pathogenic 해석 →
P1726L Likely pathogenic 0.996 pathogenic ✓ 해석 →
P1726R Pathogenic 1.000 pathogenic ✓ 해석 →
P1904L Likely pathogenic 0.996 pathogenic ✓ 해석 →
P1904R Likely pathogenic 0.998 pathogenic ✓ 해석 →
P1904S Likely pathogenic 0.996 pathogenic ✓ 해석 →
P2212S Pathogenic 0.982 pathogenic ✓ 해석 →
Q1037* Pathogenic — 미적재 해석 →
Q1058* Pathogenic — 미적재 해석 →
Q1092* Pathogenic — 미적재 해석 →
Q1153* Pathogenic — 미적재 해석 →
Q1161* Pathogenic — 미적재 해석 →
Q1302* Pathogenic — 미적재 해석 →
Q1329* Pathogenic — 미적재 해석 →
Q1358* Pathogenic — 미적재 해석 →
Q1370* Pathogenic — 미적재 해석 →
Q1405* Pathogenic — 미적재 해석 →
Q1482* Pathogenic — 미적재 해석 →
Q1561* Pathogenic — 미적재 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.