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

RTEL1: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
8
✓ 둘 다 양성
10
⚠ CV=병원성 / AM=양성
2
⚠ CV=양성 / AM=병원성
0
— AM 미적재
480
AM ↔ ClinVar 비교 가능 변이 20건 중 18건 일치 / 2건 불일치 — 일치도 90%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A101T Likely pathogenic 0.071 benign ⚠ 해석 →
A621T Pathogenic 0.929 pathogenic ✓ 해석 →
C1244R Conflicting classifications of pathogeni — 미적재 해석 →
C1268R Likely pathogenic — 미적재 해석 →
C934* Pathogenic/Likely pathogenic — 미적재 해석 →
D231Y Likely pathogenic 0.845 pathogenic ✓ 해석 →
E1020* Pathogenic/Likely pathogenic — 미적재 해석 →
E1151* Likely pathogenic — 미적재 해석 →
E1172* Pathogenic — 미적재 해석 →
E179* Pathogenic — 미적재 해석 →
E251K Uncertain significance 0.997 pathogenic 해석 →
E284* Pathogenic — 미적재 해석 →
E535* Pathogenic — 미적재 해석 →
E536* Pathogenic — 미적재 해석 →
E567* Pathogenic — 미적재 해석 →
E591D Pathogenic 0.992 pathogenic ✓ 해석 →
E665K Conflicting classifications of pathogeni 0.175 benign 해석 →
E821* Pathogenic — 미적재 해석 →
E850* Likely pathogenic — 미적재 해석 →
E870* Likely pathogenic — 미적재 해석 →
E885* Pathogenic — 미적재 해석 →
E941* Pathogenic/Likely pathogenic — 미적재 해석 →
E966* Likely pathogenic — 미적재 해석 →
F964L Conflicting classifications of pathogeni 0.954 pathogenic 해석 →
G739V Uncertain significance 0.872 pathogenic 해석 →
H1124P Pathogenic/Likely risk allele 0.505 ambiguous 해석 →
I699M Pathogenic 0.745 pathogenic ✓ 해석 →
K1087* Likely pathogenic — 미적재 해석 →
K422* Likely pathogenic — 미적재 해석 →
K568* Pathogenic — 미적재 해석 →
K626R Uncertain significance 0.222 benign 해석 →
K961* Pathogenic — 미적재 해석 →
L1092P Uncertain significance 0.272 benign 해석 →
M492I Pathogenic/Likely pathogenic 0.731 pathogenic ✓ 해석 →
M492V Likely pathogenic 0.397 ambiguous 해석 →
P17S Likely pathogenic 0.912 pathogenic ✓ 해석 →
P460L Pathogenic 0.790 pathogenic ✓ 해석 →
P484L Uncertain significance 0.912 pathogenic 해석 →
P647L Uncertain significance 0.960 pathogenic 해석 →
P654T Uncertain significance 0.492 ambiguous 해석 →
Q1014* Pathogenic/Likely pathogenic — 미적재 해석 →
Q1015* Pathogenic — 미적재 해석 →
Q1024* Likely pathogenic — 미적재 해석 →
Q1042* Pathogenic — 미적재 해석 →
Q1044* Pathogenic — 미적재 해석 →
Q1057* Pathogenic/Likely pathogenic — 미적재 해석 →
Q1078* Pathogenic — 미적재 해석 →
Q1088* Pathogenic/Likely pathogenic — 미적재 해석 →
Q1126* Likely pathogenic — 미적재 해석 →
Q1187* Pathogenic/Likely pathogenic — 미적재 해석 →
Q1204* Pathogenic/Likely pathogenic — 미적재 해석 →
Q121* Pathogenic — 미적재 해석 →
Q1256* Pathogenic — 미적재 해석 →
Q1263* Pathogenic — 미적재 해석 →
Q159* Pathogenic — 미적재 해석 →
Q16* Pathogenic — 미적재 해석 →
Q21* Pathogenic — 미적재 해석 →
Q217* Pathogenic/Likely pathogenic — 미적재 해석 →
Q371* Pathogenic — 미적재 해석 →
Q374* Pathogenic — 미적재 해석 →
Q661* Likely pathogenic — 미적재 해석 →
Q669* Pathogenic — 미적재 해석 →
Q680* Pathogenic/Likely pathogenic — 미적재 해석 →
Q747* Pathogenic — 미적재 해석 →
Q801* Pathogenic/Likely pathogenic — 미적재 해석 →
Q829* Pathogenic — 미적재 해석 →
Q843* Likely pathogenic — 미적재 해석 →
Q852* Pathogenic — 미적재 해석 →
Q892* Likely pathogenic — 미적재 해석 →
Q905* Pathogenic — 미적재 해석 →
Q909* Pathogenic/Likely pathogenic — 미적재 해석 →
Q917* Pathogenic — 미적재 해석 →
Q963* Pathogenic — 미적재 해석 →
Q970* Likely pathogenic — 미적재 해석 →
Q991* Pathogenic — 미적재 해석 →
R1264H Pathogenic/Likely pathogenic — 미적재 해석 →
R235H Uncertain significance 0.690 pathogenic 해석 →
R449* Pathogenic/Likely pathogenic — 미적재 해석 →
R550C Conflicting classifications of pathogeni 0.369 ambiguous 해석 →
R574W Uncertain significance 0.183 benign 해석 →
R60* Pathogenic/Likely pathogenic — 미적재 해석 →
R64* Pathogenic/Likely pathogenic — 미적재 해석 →
R697* Pathogenic/Likely pathogenic — 미적재 해석 →
R743* Pathogenic/Likely pathogenic — 미적재 해석 →
R754* Pathogenic/Likely pathogenic — 미적재 해석 →
R872* Pathogenic/Likely pathogenic — 미적재 해석 →
R957W Conflicting classifications of pathogeni 0.372 ambiguous 해석 →
R974* Pathogenic — 미적재 해석 →
R986* Pathogenic/Likely pathogenic — 미적재 해석 →
R986Q Conflicting classifications of pathogeni 0.071 benign 해석 →
S274* Likely pathogenic — 미적재 해석 →
S368* Pathogenic — 미적재 해석 →
S540A Conflicting classifications of pathogeni 0.334 benign 해석 →
S688C Uncertain significance 0.128 benign 해석 →
V516L Pathogenic 0.185 benign ⚠ 해석 →
V641M Likely pathogenic 0.882 pathogenic ✓ 해석 →
V745M Uncertain significance 0.313 benign 해석 →
W1217* Likely pathogenic — 미적재 해석 →
W1217* Likely pathogenic — 미적재 해석 →
W456* Pathogenic — 미적재 해석 →
W682* Pathogenic — 미적재 해석 →
W682* Pathogenic — 미적재 해석 →
W727* Likely pathogenic — 미적재 해석 →
Y1140* Likely pathogenic — 미적재 해석 →
Y175* Likely pathogenic — 미적재 해석 →
Y210* Likely pathogenic — 미적재 해석 →
Y24* Pathogenic — 미적재 해석 →
Y421* Pathogenic — 미적재 해석 →
Y648* Pathogenic — 미적재 해석 →
Y705C Uncertain significance 0.523 ambiguous 해석 →
Y953* Likely pathogenic — 미적재 해석 →
A1001T Uncertain significance 0.069 benign 해석 →
A1001V Uncertain significance 0.074 benign 해석 →
A1011P Uncertain significance 0.099 benign 해석 →
A1011T Uncertain significance 0.076 benign 해석 →
A1012E Uncertain significance 0.135 benign 해석 →
A1012S Uncertain significance 0.092 benign 해석 →
A1013T Uncertain significance 0.074 benign 해석 →
A1013V Benign/Likely benign 0.085 benign ✓ 해석 →
A1052E Uncertain significance 0.091 benign 해석 →
A1052G Uncertain significance 0.074 benign 해석 →
A1052T Uncertain significance 0.072 benign 해석 →
A1052V Uncertain significance 0.082 benign 해석 →
A1059S Uncertain significance 0.095 benign 해석 →
A1062S Uncertain significance 0.087 benign 해석 →
A1062T Conflicting classifications of pathogeni 0.073 benign 해석 →
A1062V Uncertain significance 0.102 benign 해석 →
A1065T Uncertain significance 0.091 benign 해석 →
A1065V Uncertain significance 0.131 benign 해석 →
A1067S Uncertain significance 0.172 benign 해석 →
A1067T Uncertain significance 0.097 benign 해석 →
A1070T Uncertain significance 0.114 benign 해석 →
A1070V Uncertain significance 0.124 benign 해석 →
A1074T Uncertain significance 0.072 benign 해석 →
A1074V Uncertain significance 0.092 benign 해석 →
A1081S Uncertain significance 0.100 benign 해석 →
A1081V Uncertain significance 0.116 benign 해석 →
A1082T Uncertain significance 0.145 benign 해석 →
A1082V Uncertain significance 0.153 benign 해석 →
A1085S Uncertain significance 0.096 benign 해석 →
A1085T Conflicting classifications of pathogeni 0.073 benign 해석 →
A1085V Uncertain significance 0.100 benign 해석 →
A1100G Uncertain significance 0.221 benign 해석 →
A1100S Uncertain significance 0.221 benign 해석 →
A1100V Uncertain significance 0.182 benign 해석 →
A1101S Uncertain significance 0.090 benign 해석 →
A1101T Uncertain significance 0.114 benign 해석 →
A1105E Uncertain significance 0.090 benign 해석 →
A1105G Uncertain significance 0.111 benign 해석 →
A1105T Uncertain significance 0.085 benign 해석 →
A1105V Uncertain significance 0.142 benign 해석 →
A112T Uncertain significance 0.358 ambiguous 해석 →
A112V Uncertain significance 0.806 pathogenic 해석 →
A1154G Uncertain significance 0.082 benign 해석 →
A1154P Uncertain significance 0.065 benign 해석 →
A1154V Uncertain significance 0.083 benign 해석 →
A1163S Uncertain significance 0.073 benign 해석 →
A1163T Uncertain significance 0.067 benign 해석 →
A1163V Uncertain significance 0.077 benign 해석 →
A1190P Uncertain significance 0.073 benign 해석 →
A1190V Uncertain significance 0.086 benign 해석 →
A1195G Uncertain significance 0.068 benign 해석 →
A1195T Uncertain significance 0.075 benign 해석 →
A1195V Uncertain significance 0.090 benign 해석 →
A1213T Uncertain significance 0.083 benign 해석 →
A1214P Uncertain significance 0.069 benign 해석 →
A1214T Uncertain significance 0.080 benign 해석 →
A1214V Uncertain significance 0.087 benign 해석 →
A1226S Uncertain significance — 미적재 해석 →
A1226T Uncertain significance — 미적재 해석 →
A1226V Uncertain significance — 미적재 해석 →
A1230P Uncertain significance — 미적재 해석 →
A1230V Uncertain significance — 미적재 해석 →
A1233G Uncertain significance — 미적재 해석 →
A1233S Uncertain significance — 미적재 해석 →
A1233T Uncertain significance — 미적재 해석 →
A1240P Uncertain significance — 미적재 해석 →
A1249E Uncertain significance — 미적재 해석 →
A1249T Conflicting classifications of pathogeni — 미적재 해석 →
A1249V Likely benign — 미적재 해석 →
A1259T Uncertain significance — 미적재 해석 →
A1267G Uncertain significance — 미적재 해석 →
A1275G Uncertain significance — 미적재 해석 →
A1275P Uncertain significance — 미적재 해석 →
A1275S Uncertain significance — 미적재 해석 →
A1275V Uncertain significance — 미적재 해석 →
A1281D Uncertain significance — 미적재 해석 →
A1281T Uncertain significance — 미적재 해석 →
A1281V Uncertain significance — 미적재 해석 →
A1285T Uncertain significance — 미적재 해석 →
A168T Uncertain significance 0.078 benign 해석 →
A168V Uncertain significance 0.134 benign 해석 →
A188T Uncertain significance 0.069 benign 해석 →
A188V Uncertain significance 0.070 benign 해석 →
A232D Uncertain significance 0.277 benign 해석 →
A232T Uncertain significance 0.078 benign 해석 →
A232V Uncertain significance 0.095 benign 해석 →
A237T Uncertain significance 0.137 benign 해석 →
A237V Uncertain significance 0.188 benign 해석 →
A252V Uncertain significance 0.980 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.