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

TERT: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
26
✓ 둘 다 양성
9
⚠ CV=병원성 / AM=양성
15
⚠ CV=양성 / AM=병원성
0
— AM 미적재
450
AM ↔ ClinVar 비교 가능 변이 50건 중 35건 일치 / 15건 불일치 — 일치도 70%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
*1133W Conflicting classifications of pathogeni — 미적재 해석 →
A1009V Likely pathogenic 0.867 pathogenic ✓ 해석 →
A1040T Likely pathogenic 0.173 benign ⚠ 해석 →
A130V Likely pathogenic 0.125 benign ⚠ 해석 →
A202T Conflicting classifications of pathogeni 0.075 benign 해석 →
A678D Likely risk allele 0.449 ambiguous 해석 →
A67V Uncertain significance 0.093 benign 해석 →
A716G Likely pathogenic 0.618 pathogenic ✓ 해석 →
A716T Pathogenic/Likely pathogenic 0.730 pathogenic ✓ 해석 →
A716V Pathogenic/Likely pathogenic 0.842 pathogenic ✓ 해석 →
A880T Pathogenic/Likely pathogenic 0.714 pathogenic ✓ 해석 →
A880V Conflicting classifications of pathogeni 0.770 pathogenic 해석 →
A98D Conflicting classifications of pathogeni 0.889 pathogenic 해석 →
C54* Pathogenic — 미적재 해석 →
C76* Likely risk allele — 미적재 해석 →
D43N Uncertain significance 0.845 pathogenic 해석 →
D684G Conflicting classifications of pathogeni 0.159 benign 해석 →
D685N Likely pathogenic 0.305 benign ⚠ 해석 →
D868G Likely pathogenic 0.963 pathogenic ✓ 해석 →
E1068K Likely risk allele 0.155 benign 해석 →
E1116Q Uncertain significance 0.073 benign 해석 →
E200* Pathogenic — 미적재 해석 →
E429* Pathogenic — 미적재 해석 →
E484* Pathogenic — 미적재 해석 →
E484D Pathogenic 0.747 pathogenic ✓ 해석 →
E538* Pathogenic — 미적재 해석 →
E611* Pathogenic — 미적재 해석 →
E668D Pathogenic 0.903 pathogenic ✓ 해석 →
E793K Uncertain significance 0.926 pathogenic 해석 →
E800K Uncertain significance 0.215 benign 해석 →
F115L Likely pathogenic 0.973 pathogenic ✓ 해석 →
F883C Likely pathogenic 0.933 pathogenic ✓ 해석 →
F883I Likely risk allele 0.883 pathogenic 해석 →
G1063S Pathogenic/Likely pathogenic 0.131 benign ⚠ 해석 →
G110A Conflicting classifications of pathogeni 0.143 benign 해석 →
G110V Likely pathogenic 0.179 benign ⚠ 해석 →
G861R Uncertain significance 0.809 pathogenic 해석 →
G890D Conflicting classifications of pathogeni 0.750 pathogenic 해석 →
H412Y Conflicting classifications of pathogeni 0.080 benign 해석 →
H455L Conflicting classifications of pathogeni 0.417 ambiguous 해석 →
H534R Likely pathogenic 0.681 pathogenic ✓ 해석 →
H925Q Uncertain significance 0.135 benign 해석 →
H983Y Conflicting classifications of pathogeni 0.245 benign 해석 →
I540M Likely pathogenic 0.186 benign ⚠ 해석 →
I686M Likely pathogenic 0.264 benign ⚠ 해석 →
K570* Pathogenic — 미적재 해석 →
K570N Pathogenic 0.937 pathogenic ✓ 해석 →
K570N Likely risk allele 0.937 pathogenic 해석 →
K902* Pathogenic — 미적재 해석 →
K902N Pathogenic 0.976 pathogenic ✓ 해석 →
K902R Pathogenic 0.585 pathogenic ✓ 해석 →
L103G Uncertain significance 0.757 pathogenic 해석 →
L139R Uncertain significance 0.169 benign 해석 →
L141V Conflicting classifications of pathogeni 0.352 ambiguous 해석 →
L149Q Likely risk allele 0.788 pathogenic 해석 →
L55Q Pathogenic 0.676 pathogenic ✓ 해석 →
L77P Conflicting classifications of pathogeni 0.284 benign 해석 →
L841F Likely pathogenic 0.534 ambiguous 해석 →
L864P Conflicting classifications of pathogeni 0.957 pathogenic 해석 →
L927R Likely pathogenic 0.090 benign ⚠ 해석 →
L974R Likely pathogenic 0.931 pathogenic ✓ 해석 →
M773T Conflicting classifications of pathogeni 0.733 pathogenic 해석 →
P33S Likely risk allele 0.127 benign 해석 →
P632L Uncertain significance 0.673 pathogenic 해석 →
P65A Conflicting classifications of pathogeni 0.074 benign 해석 →
P65T Uncertain significance 0.150 benign 해석 →
P702L Conflicting classifications of pathogeni 0.089 benign 해석 →
P702R Likely pathogenic 0.091 benign ⚠ 해석 →
P704S Pathogenic/Likely pathogenic 0.102 benign ⚠ 해석 →
P771L Conflicting classifications of pathogeni 0.391 ambiguous 해석 →
P908L Pathogenic 0.102 benign ⚠ 해석 →
P923L Conflicting classifications of pathogeni 0.171 benign 해석 →
Q1071* Pathogenic — 미적재 해석 →
Q169* Pathogenic — 미적재 해석 →
Q253* Pathogenic — 미적재 해석 →
Q700* Pathogenic — 미적재 해석 →
Q775* Pathogenic — 미적재 해석 →
Q794* Pathogenic — 미적재 해석 →
Q86H Pathogenic 0.883 pathogenic ✓ 해석 →
R120P Conflicting classifications of pathogeni 0.662 pathogenic 해석 →
R194* Pathogenic — 미적재 해석 →
R230* Pathogenic — 미적재 해석 →
R301L Conflicting classifications of pathogeni 0.085 benign 해석 →
R416* Pathogenic — 미적재 해석 →
R466P Uncertain significance 0.909 pathogenic 해석 →
R486C Conflicting classifications of pathogeni 0.134 benign 해석 →
R535C Uncertain significance 0.146 benign 해석 →
R577W Conflicting classifications of pathogeni 0.602 pathogenic 해석 →
R599Q Uncertain significance 0.090 benign 해석 →
R622C Conflicting classifications of pathogeni 0.606 pathogenic 해석 →
R631Q Pathogenic 0.748 pathogenic ✓ 해석 →
R631W Pathogenic/Likely pathogenic 0.566 pathogenic ✓ 해석 →
R669W Conflicting classifications of pathogeni 0.269 benign 해석 →
R671G Conflicting classifications of pathogeni 0.114 benign 해석 →
R671W Pathogenic/Likely pathogenic 0.126 benign ⚠ 해석 →
R698W Conflicting classifications of pathogeni 0.184 benign 해석 →
R742H Conflicting classifications of pathogeni 0.436 ambiguous 해석 →
R743W Conflicting classifications of pathogeni 0.153 benign 해석 →
R774* Pathogenic/Likely pathogenic — 미적재 해석 →
R811C Conflicting classifications of pathogeni 0.114 benign 해석 →
R811C Conflicting classifications of pathogeni 0.114 benign 해석 →
R819C Conflicting classifications of pathogeni 0.127 benign 해석 →
R83* Pathogenic — 미적재 해석 →
R865C Conflicting classifications of pathogeni 0.671 pathogenic 해석 →
R865H Pathogenic/Likely pathogenic 0.699 pathogenic ✓ 해석 →
R865L Likely pathogenic 0.929 pathogenic ✓ 해석 →
R889* Likely pathogenic — 미적재 해석 →
R901W Conflicting classifications of pathogeni 0.125 benign 해석 →
R938W Pathogenic/Likely pathogenic 0.128 benign ⚠ 해석 →
R951W Conflicting classifications of pathogeni 0.131 benign 해석 →
R971H Conflicting classifications of pathogeni 0.218 benign 해석 →
R979Q Conflicting classifications of pathogeni 0.105 benign 해석 →
R979W Conflicting classifications of pathogeni 0.179 benign 해석 →
S480P Conflicting classifications of pathogeni 0.881 pathogenic 해석 →
S602* Pathogenic — 미적재 해석 →
S947P Pathogenic 0.576 pathogenic ✓ 해석 →
S957R Likely risk allele 0.991 pathogenic 해석 →
T1110M Uncertain significance 0.076 benign 해석 →
T116I Likely pathogenic 0.855 pathogenic ✓ 해석 →
T126K Likely risk allele 0.673 pathogenic 해석 →
T128I Likely pathogenic 0.698 pathogenic ✓ 해석 →
T567M Likely pathogenic 0.094 benign ⚠ 해석 →
T874R Likely risk allele 0.961 pathogenic 해석 →
V1025F Pathogenic 0.588 pathogenic ✓ 해석 →
V1090M Uncertain significance 0.111 benign 해석 →
V144M Conflicting classifications of pathogeni 0.395 ambiguous 해석 →
V170M Conflicting classifications of pathogeni 0.649 pathogenic 해석 →
V28G Uncertain significance 0.304 benign 해석 →
V461L Conflicting classifications of pathogeni 0.751 pathogenic 해석 →
V664L Conflicting classifications of pathogeni 0.496 ambiguous 해석 →
V694E Conflicting classifications of pathogeni 0.743 pathogenic 해석 →
V694M Conflicting classifications of pathogeni 0.448 ambiguous 해석 →
V777M Conflicting classifications of pathogeni 0.554 ambiguous 해석 →
V790I Conflicting classifications of pathogeni 0.106 benign 해석 →
V84M Likely pathogenic 0.625 pathogenic ✓ 해석 →
V867M Pathogenic/Likely pathogenic 0.474 ambiguous 해석 →
W256* Pathogenic — 미적재 해석 →
W317* Pathogenic — 미적재 해석 →
W478* Pathogenic — 미적재 해석 →
W581* Pathogenic — 미적재 해석 →
W60* Pathogenic — 미적재 해석 →
W930* Pathogenic — 미적재 해석 →
Y667* Pathogenic — 미적재 해석 →
Y772C Uncertain significance 0.216 benign 해석 →
Y772H Likely pathogenic 0.296 benign ⚠ 해석 →
Y825H Uncertain significance 0.711 pathogenic 해석 →
A1009S Uncertain significance 0.250 benign 해석 →
A1014S Uncertain significance 0.174 benign 해석 →
A1014T Uncertain significance 0.260 benign 해석 →
A102S Uncertain significance 0.106 benign 해석 →
A102V Uncertain significance 0.243 benign 해석 →
A1040S Uncertain significance 0.112 benign 해석 →
A1049G Uncertain significance 0.097 benign 해석 →
A1049P Uncertain significance 0.544 ambiguous 해석 →
A1052S Uncertain significance 0.092 benign 해석 →
A1052T Uncertain significance 0.069 benign 해석 →
A1058F Uncertain significance 0.200 benign 해석 →
A1058S Uncertain significance 0.084 benign 해석 →
A1058T Uncertain significance 0.068 benign 해석 →
A1058T Uncertain significance 0.068 benign 해석 →
A1058V Uncertain significance 0.096 benign 해석 →
A1061S Uncertain significance 0.099 benign 해석 →
A1061T Uncertain significance 0.084 benign 해석 →
A1062S Uncertain significance 0.077 benign 해석 →
A1062T Conflicting classifications of pathogeni 0.069 benign 해석 →
A1077P Uncertain significance 0.916 pathogenic 해석 →
A1077T Uncertain significance 0.644 pathogenic 해석 →
A107D Uncertain significance 0.134 benign 해석 →
A107P Uncertain significance 0.106 benign 해석 →
A107S Uncertain significance 0.089 benign 해석 →
A107T Uncertain significance 0.092 benign 해석 →
A107V Uncertain significance 0.125 benign 해석 →
A1099T Uncertain significance 0.086 benign 해석 →
A1114T Uncertain significance 0.072 benign 해석 →
A1114V Uncertain significance 0.071 benign 해석 →
A1117D Uncertain significance 0.114 benign 해석 →
A1117S Uncertain significance 0.095 benign 해석 →
A1117V Uncertain significance 0.089 benign 해석 →
A1118S Uncertain significance 0.139 benign 해석 →
A1118T Uncertain significance 0.115 benign 해석 →
A1119G Uncertain significance 0.134 benign 해석 →
A1119T Likely benign 0.082 benign ✓ 해석 →
A114V Uncertain significance 0.181 benign 해석 →
A130T Likely benign 0.065 benign ✓ 해석 →
A154S Uncertain significance 0.081 benign 해석 →
A157T Uncertain significance 0.237 benign 해석 →
A157V Uncertain significance 0.432 ambiguous 해석 →
A163V Uncertain significance 0.247 benign 해석 →
A167S Uncertain significance 0.300 benign 해석 →
A167T Uncertain significance 0.440 ambiguous 해석 →
A180T Uncertain significance 0.078 benign 해석 →
A180V Uncertain significance 0.091 benign 해석 →
A181S Uncertain significance 0.088 benign 해석 →
A181V Uncertain significance 0.093 benign 해석 →
A184T Conflicting classifications of pathogeni 0.074 benign 해석 →
A184V Uncertain significance 0.084 benign 해석 →
A190D Uncertain significance 0.097 benign 해석 →
A190G Uncertain significance 0.073 benign 해석 →
A190S Uncertain significance 0.083 benign 해석 →
A190T Uncertain significance 0.075 benign 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.