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

BRCA1: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
104
✓ 둘 다 양성
1
⚠ CV=병원성 / AM=양성
15
⚠ CV=양성 / AM=병원성
0
— AM 미적재
380
AM ↔ ClinVar 비교 가능 변이 120건 중 105건 일치 / 15건 불일치 — 일치도 87.5%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A1623G Pathogenic/Likely pathogenic 0.110 benign ⚠ 해석 →
A1708E Pathogenic 0.971 pathogenic ✓ 해석 →
A1708G Conflicting classifications of pathogeni 0.471 ambiguous 해석 →
A1708T Conflicting classifications of pathogeni 0.556 ambiguous 해석 →
A1752E Pathogenic 0.927 pathogenic ✓ 해석 →
A1752P Pathogenic/Likely pathogenic 0.970 pathogenic ✓ 해석 →
A1752T Uncertain significance 0.657 pathogenic 해석 →
A1789D Likely pathogenic 0.968 pathogenic ✓ 해석 →
A1789T Likely pathogenic 0.696 pathogenic ✓ 해석 →
A1789V Likely pathogenic 0.798 pathogenic ✓ 해석 →
A1823P Likely pathogenic 0.190 benign ⚠ 해석 →
A1823S Pathogenic 0.095 benign ⚠ 해석 →
A1823T Pathogenic/Likely pathogenic 0.083 benign ⚠ 해석 →
A1830S Likely pathogenic 0.123 benign ⚠ 해석 →
A1843E Conflicting classifications of pathogeni 0.961 pathogenic 해석 →
A1843P Likely pathogenic 0.964 pathogenic ✓ 해석 →
A521* Pathogenic — 미적재 해석 →
C1103* Pathogenic — 미적재 해석 →
C1225* Pathogenic — 미적재 해석 →
C1251* Pathogenic — 미적재 해석 →
C1270* Pathogenic — 미적재 해석 →
C1291* Pathogenic — 미적재 해석 →
C1300* Pathogenic — 미적재 해석 →
C1372* Pathogenic — 미적재 해석 →
C1382* Pathogenic — 미적재 해석 →
C1501* Pathogenic — 미적재 해석 →
C1513* Pathogenic — 미적재 해석 →
C1697F Likely pathogenic 0.888 pathogenic ✓ 해석 →
C1697R Pathogenic 0.959 pathogenic ✓ 해석 →
C1697W Conflicting classifications of pathogeni 0.974 pathogenic 해석 →
C1697Y Likely pathogenic 0.958 pathogenic ✓ 해석 →
C1767* Pathogenic — 미적재 해석 →
C1767F Conflicting classifications of pathogeni 0.317 benign 해석 →
C1787* Pathogenic — 미적재 해석 →
C1787R Conflicting classifications of pathogeni 0.974 pathogenic 해석 →
C1787S not provided 0.624 pathogenic 해석 →
C1787Y Likely pathogenic 0.945 pathogenic ✓ 해석 →
C1828* Pathogenic — 미적재 해석 →
C1847* Pathogenic — 미적재 해석 →
C226* Pathogenic — 미적재 해석 →
C24* Pathogenic/Likely pathogenic — 미적재 해석 →
C24* Pathogenic — 미적재 해석 →
C24* Pathogenic — 미적재 해석 →
C24G Pathogenic/Likely pathogenic 0.993 pathogenic ✓ 해석 →
C24R Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
C24S Likely pathogenic 0.998 pathogenic ✓ 해석 →
C24S Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
C24W Pathogenic 0.998 pathogenic ✓ 해석 →
C24Y Pathogenic/Likely pathogenic 0.996 pathogenic ✓ 해석 →
C274* Pathogenic — 미적재 해석 →
C27F Likely pathogenic 0.990 pathogenic ✓ 해석 →
C27G Likely pathogenic 0.983 pathogenic ✓ 해석 →
C27R Likely pathogenic 0.998 pathogenic ✓ 해석 →
C27S Conflicting classifications of pathogeni 0.994 pathogenic 해석 →
C27W Likely pathogenic 0.997 pathogenic ✓ 해석 →
C27Y Likely pathogenic 0.996 pathogenic ✓ 해석 →
C348* Pathogenic — 미적재 해석 →
C360* Pathogenic — 미적재 해석 →
C39* Pathogenic — 미적재 해석 →
C39F Pathogenic/Likely pathogenic 0.993 pathogenic ✓ 해석 →
C39G Pathogenic/Likely pathogenic 0.974 pathogenic ✓ 해석 →
C39R Pathogenic 0.998 pathogenic ✓ 해석 →
C39S Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
C39W Pathogenic 0.995 pathogenic ✓ 해석 →
C39Y Pathogenic 0.993 pathogenic ✓ 해석 →
C442* Pathogenic — 미적재 해석 →
C44F Pathogenic 0.995 pathogenic ✓ 해석 →
C44R Pathogenic 0.998 pathogenic ✓ 해석 →
C44S Likely pathogenic 0.996 pathogenic ✓ 해석 →
C44S Pathogenic 0.996 pathogenic ✓ 해석 →
C44S Pathogenic 0.996 pathogenic ✓ 해석 →
C44W Likely pathogenic 0.997 pathogenic ✓ 해석 →
C44Y Pathogenic 0.997 pathogenic ✓ 해석 →
C47* Pathogenic — 미적재 해석 →
C47F Pathogenic/Likely pathogenic 0.995 pathogenic ✓ 해석 →
C47G Likely pathogenic 0.993 pathogenic ✓ 해석 →
C47R Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
C47S Pathogenic 0.997 pathogenic ✓ 해석 →
C47Y Pathogenic 0.997 pathogenic ✓ 해석 →
C61G Pathogenic 0.990 pathogenic ✓ 해석 →
C61R Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
C61S Pathogenic 0.998 pathogenic ✓ 해석 →
C61Y Pathogenic 0.992 pathogenic ✓ 해석 →
C636* Pathogenic — 미적재 해석 →
C64* Pathogenic — 미적재 해석 →
C64* Pathogenic — 미적재 해석 →
C64G Pathogenic 0.973 pathogenic ✓ 해석 →
C64R Pathogenic 0.997 pathogenic ✓ 해석 →
C64S Likely pathogenic 0.996 pathogenic ✓ 해석 →
C64S Pathogenic/Likely pathogenic 0.996 pathogenic ✓ 해석 →
C64W Pathogenic/Likely pathogenic 0.994 pathogenic ✓ 해석 →
C64Y Pathogenic 0.993 pathogenic ✓ 해석 →
C801* Pathogenic — 미적재 해석 →
C805* Pathogenic — 미적재 해석 →
C882* Pathogenic — 미적재 해석 →
C903* Pathogenic — 미적재 해석 →
C91* Pathogenic — 미적재 해석 →
C944* Pathogenic — 미적재 해석 →
C994* Pathogenic — 미적재 해석 →
D1151* Pathogenic — 미적재 해석 →
D1337* Pathogenic/Likely pathogenic — 미적재 해석 →
D1441N Likely pathogenic 0.101 benign ⚠ 해석 →
D1692A Conflicting classifications of pathogeni 0.789 pathogenic 해석 →
D1692E Conflicting classifications of pathogeni 0.835 pathogenic 해석 →
D1692H Pathogenic 0.887 pathogenic ✓ 해석 →
D1692N Pathogenic/Likely pathogenic 0.294 benign ⚠ 해석 →
D1692V Likely pathogenic 0.880 pathogenic ✓ 해석 →
D1692Y Pathogenic 0.831 pathogenic ✓ 해석 →
D1739E Likely pathogenic 0.975 pathogenic ✓ 해석 →
D1739G Pathogenic/Likely pathogenic 0.977 pathogenic ✓ 해석 →
D1739H Likely pathogenic 0.986 pathogenic ✓ 해석 →
D1739N Conflicting classifications of pathogeni 0.872 pathogenic 해석 →
D1739V Pathogenic/Likely pathogenic 0.977 pathogenic ✓ 해석 →
D1739Y Pathogenic/Likely pathogenic 0.950 pathogenic ✓ 해석 →
D1778N Pathogenic 0.117 benign ⚠ 해석 →
D1818G Pathogenic/Likely pathogenic 0.084 benign ⚠ 해석 →
D642* Pathogenic — 미적재 해석 →
D693* Pathogenic — 미적재 해석 →
D825* Pathogenic — 미적재 해석 →
D853* Pathogenic — 미적재 해석 →
D96A Likely pathogenic 0.928 pathogenic ✓ 해석 →
D96G Pathogenic/Likely pathogenic 0.920 pathogenic ✓ 해석 →
D96H Conflicting classifications of pathogeni 0.937 pathogenic 해석 →
D96N Likely pathogenic 0.850 pathogenic ✓ 해석 →
D96V Pathogenic/Likely pathogenic 0.941 pathogenic ✓ 해석 →
E1001* Pathogenic — 미적재 해석 →
E1004* Pathogenic — 미적재 해석 →
E1004* Pathogenic — 미적재 해석 →
E1005* Pathogenic — 미적재 해석 →
E1011* Pathogenic — 미적재 해석 →
E1013* Pathogenic — 미적재 해석 →
E1017* Pathogenic — 미적재 해석 →
E1033* Pathogenic — 미적재 해석 →
E1038* Pathogenic — 미적재 해석 →
E1038G Benign 0.099 benign ✓ 해석 →
E1046* Pathogenic — 미적재 해석 →
E1053* Pathogenic — 미적재 해석 →
E1060* Pathogenic — 미적재 해석 →
E1066* Pathogenic — 미적재 해석 →
E1071* Pathogenic — 미적재 해석 →
E1092* Likely pathogenic — 미적재 해석 →
E1092* Pathogenic — 미적재 해석 →
E1107* Pathogenic — 미적재 해석 →
E111* Pathogenic — 미적재 해석 →
E1114* Pathogenic — 미적재 해석 →
E1115* Likely pathogenic — 미적재 해석 →
E1134* Pathogenic — 미적재 해석 →
E1148* Pathogenic — 미적재 해석 →
E1158* Pathogenic — 미적재 해석 →
E116* Pathogenic — 미적재 해석 →
E116* Pathogenic — 미적재 해석 →
E1161* Pathogenic — 미적재 해석 →
E1172* Pathogenic — 미적재 해석 →
E1185* Pathogenic — 미적재 해석 →
E1213* Pathogenic — 미적재 해석 →
E1214* Pathogenic — 미적재 해석 →
E1221* Pathogenic — 미적재 해석 →
E1222* Pathogenic — 미적재 해석 →
E1250* Pathogenic — 미적재 해석 →
E1258* Pathogenic — 미적재 해석 →
E1282* Pathogenic — 미적재 해석 →
E1288* Pathogenic — 미적재 해석 →
E1302* Pathogenic — 미적재 해석 →
E1304* Pathogenic — 미적재 해석 →
E1339* Pathogenic — 미적재 해석 →
E1345* Pathogenic — 미적재 해석 →
E1346* Pathogenic — 미적재 해석 →
E1352* Pathogenic — 미적재 해석 →
E1353* Pathogenic — 미적재 해석 →
E1357* Pathogenic — 미적재 해석 →
E1358* Pathogenic — 미적재 해석 →
E1367* Pathogenic — 미적재 해석 →
E1373* Pathogenic — 미적재 해석 →
E1373* Pathogenic — 미적재 해석 →
E1375* Pathogenic — 미적재 해석 →
E141* Pathogenic — 미적재 해석 →
E1410* Pathogenic — 미적재 해석 →
E1413* Pathogenic — 미적재 해석 →
E1415* Pathogenic — 미적재 해석 →
E1419* Pathogenic — 미적재 해석 →
E143* Pathogenic — 미적재 해석 →
E1440* Pathogenic — 미적재 해석 →
E1446* Pathogenic/Likely pathogenic — 미적재 해석 →
E1470* Pathogenic — 미적재 해석 →
E1478* Pathogenic — 미적재 해석 →
E149* Pathogenic — 미적재 해석 →
E1490* Pathogenic — 미적재 해석 →
E1494* Pathogenic — 미적재 해석 →
E1526* Pathogenic — 미적재 해석 →
E1527* Pathogenic — 미적재 해석 →
E1535* Pathogenic — 미적재 해석 →
E1536* Pathogenic — 미적재 해석 →
E1540* Pathogenic — 미적재 해석 →
E1541* Pathogenic — 미적재 해석 →
E1559* Pathogenic — 미적재 해석 →
E1559K Pathogenic 0.134 benign ⚠ 해석 →
E1559Q Pathogenic/Likely pathogenic 0.141 benign ⚠ 해석 →
E1581* Pathogenic — 미적재 해석 →
E1586* Pathogenic — 미적재 해석 →
E1609* 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.