CHRNA5 — 62 ClinVar variants
All ClinVar germline CHRNA5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
8 Benign · 8 Likely benign · 46 Uncertain significance
Full CHRNA5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CHRNA5 p.Arg12Leu Uncertain significance Single submitter
- CHRNA5 p.Arg372Lys Uncertain significance Single submitter
- CHRNA5 p.Arg9Leu Uncertain significance Single submitter
- CHRNA5 p.Asn411Ser Uncertain significance Single submitter
- CHRNA5 p.Asp214Asn Uncertain significance Single submitter
- CHRNA5 p.Cys235Ser Uncertain significance Single submitter
- CHRNA5 p.Gln205Lys Uncertain significance Single submitter
- CHRNA5 p.Gln56Leu Uncertain significance Single submitter
- CHRNA5 p.Ile400Val Uncertain significance Single submitter
- CHRNA5 p.Ile457Thr Uncertain significance Single submitter
- CHRNA5 p.Ile463Met Uncertain significance Single submitter
- CHRNA5 p.Leu255Phe Uncertain significance Single submitter
- CHRNA5 p.Leu289Phe Uncertain significance Single submitter
- CHRNA5 p.Leu351Ser Uncertain significance Single submitter
- CHRNA5 p.Leu397Pro Uncertain significance Single submitter
- CHRNA5 p.Met329Thr Uncertain significance Single submitter
-
CHRNA5 p.Phe295Tyr
Uncertain significance
Single submitter
CHRNA5-related condition
- CHRNA5 p.Pro40Thr Uncertain significance Single submitter
- CHRNA5 p.Pro449Arg Uncertain significance Single submitter
- CHRNA5 p.Ser6Leu Uncertain significance Single submitter
- CHRNA5 p.Thr286Asn Uncertain significance Single submitter
- CHRNA5 p.Thr331Ile Uncertain significance Single submitter
- CHRNA5 p.Thr380Ser Uncertain significance Single submitter
- CHRNA5 p.Val151Ile Uncertain significance Single submitter
- CHRNA5 p.Val288Glu Uncertain significance Single submitter
- CHRNA5 p.Val318Leu Uncertain significance Single submitter
- CHRNA5 p.Val86Leu Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- CHRNA5 p.Leu363Gln Benign Multiple submitters
- CHRNA5 p.Lys167Arg Benign Multiple submitters
- CHRNA5 p.Ala27Val Uncertain significance Single submitter
- CHRNA5 p.Ala30Pro Uncertain significance Single submitter
- CHRNA5 p.Ala396Val Uncertain significance Single submitter
- CHRNA5 p.Arg353His Uncertain significance Single submitter
- CHRNA5 p.Arg401Cys Likely benign Single submitter
- CHRNA5 p.Cys234Tyr Uncertain significance Single submitter
- CHRNA5 p.Gly5Trp Uncertain significance Single submitter
- CHRNA5 p.Ile313Val Uncertain significance Single submitter
- CHRNA5 p.Leu11Phe Uncertain significance Single submitter
- CHRNA5 p.Leu16Ser Uncertain significance Single submitter
- CHRNA5 p.Leu26Gln Uncertain significance Single submitter
- CHRNA5 p.Leu397Phe Uncertain significance Single submitter
- CHRNA5 p.Pro162Ser Uncertain significance Single submitter
- CHRNA5 p.Pro350Ala Uncertain significance Single submitter
- CHRNA5 p.Ser196Leu Uncertain significance Single submitter
- CHRNA5 p.Ser389Cys Uncertain significance Single submitter
- CHRNA5 p.Thr175Met Uncertain significance Single submitter
- CHRNA5 p.Val438Leu Uncertain significance Single submitter
All CHRNA5 variants
Benign 8
- p.Gln18= Multiple submitters
- p.Gly31= Multiple submitters
- p.Leu363Gln Multiple submitters ⚠
- p.Lys167Arg Multiple submitters ⚠
- p.Thr331= Multiple submitters
- p.Tyr58= Multiple submitters
- p.Asn391= Single submitter
- p.Leu397= Single submitter
Likely benign 8
- p.Thr359Met Multiple submitters
- p.Ala29= Single submitter
- p.Ala395Thr Single submitter
- p.Arg401Cys Single submitter ⚠
- p.Gln82= Single submitter
- p.Gly263= Single submitter
- p.Phe437Leu Single submitter
- p.Pro238Leu Single submitter
Uncertain significance 46
- c.304-96C>A Single submitter lung adenocarcinoma
- c.*747T>C Single submitter squamous cell carcinoma
- p.Ala27Val Single submitter ⚠
- p.Ala30Pro Single submitter ⚠
- p.Ala396Val Single submitter ⚠
- p.Arg12Leu Single submitter ⚠
- p.Arg353His Single submitter ⚠
- p.Arg372Lys Single submitter ⚠
- p.Arg9Leu Single submitter ⚠
- p.Asn411Ser Single submitter ⚠
- p.Asp214Asn Single submitter ⚠
- p.Cys234Tyr Single submitter ⚠
- p.Cys235Ser Single submitter ⚠
- p.Gln205Lys Single submitter ⚠
- p.Gln56Leu Single submitter ⚠
- p.Gly5Trp Single submitter ⚠
- p.Ile313Val Single submitter ⚠
- p.Ile400Val Single submitter ⚠
- p.Ile457Thr Single submitter ⚠
- p.Ile463Met Single submitter ⚠
- p.Leu11Phe Single submitter ⚠
- p.Leu16Ser Single submitter ⚠
- p.Leu255Phe Single submitter ⚠
- p.Leu26Gln Single submitter ⚠
- p.Leu289Phe Single submitter ⚠
- p.Leu351Ser Single submitter ⚠
- p.Leu397Phe Single submitter ⚠
- p.Leu397Pro Single submitter ⚠
- p.Met329Thr Single submitter ⚠
- p.Phe295Tyr Single submitter CHRNA5-related condition ⚠
- p.Pro162Ser Single submitter ⚠
- p.Pro350Ala Single submitter ⚠
- p.Pro40Thr Single submitter ⚠
- p.Pro449Arg Single submitter ⚠
- p.Ser196Leu Single submitter ⚠
- p.Ser389Cys Single submitter ⚠
- p.Ser6Leu Single submitter ⚠
- p.Thr175Met Single submitter ⚠
- p.Thr286Asn Single submitter ⚠
- p.Thr331Ile Single submitter ⚠
- p.Thr380Ser Single submitter ⚠
- p.Val151Ile Single submitter ⚠
- p.Val288Glu Single submitter ⚠
- p.Val318Leu Single submitter ⚠
- p.Val438Leu Single submitter ⚠
- p.Val86Leu Single submitter ⚠