BCAP31 — 217 ClinVar variants
All ClinVar germline BCAP31 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 74 flagged for review →
11 Pathogenic · 5 Likely pathogenic · 10 Conflicting · 23 Benign · 87 Likely benign · 81 Uncertain significance
Full BCAP31 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 74
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 agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- BCAP31 p.Ala173Ser Conflicting Single submitter
-
BCAP31 p.Asn207Asp
Conflicting
Single submitter
Inborn genetic diseases
-
BCAP31 p.Asp238Val
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BCAP31 p.Arg118Cys Uncertain significance Multiple submitters
-
BCAP31 p.Glu245Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BCAP31 p.Ile56Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BCAP31 p.Lys30Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- BCAP31 p.Phe52Ser Uncertain significance Multiple submitters
-
BCAP31 p.Ala106Val
Uncertain significance
Single submitter
severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
- BCAP31 p.Ala131Pro Uncertain significance Single submitter
- BCAP31 p.Ala14Val Uncertain significance Single submitter
- BCAP31 p.Arg118His Uncertain significance Single submitter
-
BCAP31 p.Arg31Lys
Uncertain significance
Single submitter
severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
- BCAP31 p.Arg68Cys Uncertain significance Single submitter
- BCAP31 p.Arg98Cys Uncertain significance Single submitter
- BCAP31 p.Arg98His Uncertain significance Single submitter
-
BCAP31 p.Asp164Glu
Uncertain significance
Single submitter
severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
- BCAP31 p.Gln208Glu Uncertain significance Single submitter
-
BCAP31 p.Glu69Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- BCAP31 p.Ile105Val Uncertain significance Single submitter
- BCAP31 p.Leu12Phe Uncertain significance Single submitter
-
BCAP31 p.Leu184Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- BCAP31 p.Leu21Pro Uncertain significance Single submitter
- BCAP31 p.Lys148Arg Uncertain significance Single submitter
- BCAP31 p.Met151Thr Uncertain significance Single submitter
- BCAP31 p.Met241Thr Uncertain significance Single submitter
- BCAP31 p.Phe108Ile Uncertain significance Single submitter
- BCAP31 p.Pro25Ser Uncertain significance Single submitter
- BCAP31 p.Pro25Thr Uncertain significance Single submitter
- BCAP31 p.Thr10Pro Uncertain significance Single submitter
- BCAP31 p.Thr220Asn Uncertain significance Single submitter
- BCAP31 p.Val76Ala Uncertain significance Single submitter
-
BCAP31 p.Ala235Thr
Uncertain significance
No assertion criteria
BCAP31-related disorder
- BCAP31 p.Thr77Met Uncertain significance No assertion criteria
Predictors split 40
The independent predictors disagree with each other — read with care.
-
BCAP31 p.Gly165Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BCAP31 p.Gly239Asp
Uncertain significance
Multiple submitters
severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
-
BCAP31 p.Leu226Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BCAP31 p.Leu40Pro
Uncertain significance
Multiple submitters
Global developmental delay
- BCAP31 p.Ser183Ile Uncertain significance Multiple submitters
- BCAP31 p.Thr6Ile Uncertain significance Multiple submitters
-
BCAP31 p.Ala146Val
Conflicting
Single submitter
Inborn genetic diseases
- BCAP31 p.Ala14Gly Uncertain significance Single submitter
- BCAP31 p.Ala235Val Uncertain significance Single submitter
- BCAP31 p.Arg213Trp Uncertain significance Single submitter
- BCAP31 p.Arg225Cys Uncertain significance Single submitter
-
BCAP31 p.Arg39Gln
Likely benign
Single submitter
Inborn genetic diseases
- BCAP31 p.Arg39Trp Likely benign Single submitter
-
BCAP31 p.Arg71Gln
Conflicting
Single submitter
Inborn genetic diseases
- BCAP31 p.Arg71Trp Uncertain significance Single submitter
-
BCAP31 p.Asn133Ser
Conflicting
Single submitter
Inborn genetic diseases
- BCAP31 p.Asp224Asn Uncertain significance Single submitter
- BCAP31 p.Gln125Arg Uncertain significance Single submitter
- BCAP31 p.Glu180Asp Uncertain significance Single submitter
-
BCAP31 p.Glu194Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- BCAP31 p.Glu206Gly Uncertain significance Single submitter
- BCAP31 p.Leu157Phe Uncertain significance Single submitter
- BCAP31 p.Leu168Phe Uncertain significance Single submitter
- BCAP31 p.Leu184Arg Uncertain significance Single submitter
-
BCAP31 p.Leu184Val
Uncertain significance
Single submitter
Inborn genetic diseases
- BCAP31 p.Leu40Met Uncertain significance Single submitter
- BCAP31 p.Lys158Glu Uncertain significance Single submitter
- BCAP31 p.Lys167Arg Uncertain significance Single submitter
- BCAP31 p.Lys167Glu Uncertain significance Single submitter
- BCAP31 p.Lys221Met Uncertain significance Single submitter
- BCAP31 p.Met151Val Uncertain significance Single submitter
- BCAP31 p.Phe26Leu Uncertain significance Single submitter
- BCAP31 p.Pro240Arg Uncertain significance Single submitter
-
BCAP31 p.Pro240Leu
Conflicting
Single submitter
Inborn genetic diseases
-
BCAP31 p.Pro29Ser
Conflicting
Single submitter
Inborn genetic diseases
- BCAP31 p.Thr10Ala Uncertain significance Single submitter
- BCAP31 p.Thr128Met Conflicting Single submitter
- BCAP31 p.Tyr73Phe Uncertain significance Single submitter
-
BCAP31 p.Val237Leu
Uncertain significance
Single submitter
severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
- BCAP31 p.Val67Met Uncertain significance Single submitter
All BCAP31 variants
Pathogenic 11
- p.Leu122fs Multiple submitters severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
- c.341+2T>G Single submitter severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
- p.Ala99fs Single submitter
- p.Arg31Ter Single submitter
- p.Gln139Ter Single submitter severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
- p.Glu134Ter Single submitter
- p.Lys176Ter Single submitter
- p.Tyr104fs Single submitter
- c.194-2A>G No assertion criteria severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
- c.-44-270C>A No assertion criteria severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
- p.Gln33Ter No assertion criteria severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Likely pathogenic 5
- c.477+1G>C Single submitter
- p.Cys23Arg Single submitter
- p.Gln156Ter Single submitter severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
- p.Gly165fs Single submitter severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
- p.Ter247Gln Single submitter Inborn genetic diseases
Conflicting classifications of pathogenicity 10
- c.92+4T>C Single submitter
- p.Ala146Val Single submitter Inborn genetic diseases ⚠
- p.Ala173Ser Single submitter ⚠
- p.Arg71Gln Single submitter Inborn genetic diseases ⚠
- p.Asn133Ser Single submitter Inborn genetic diseases ⚠
- p.Asn207Asp Single submitter Inborn genetic diseases ⚠
- p.Asp238Val Single submitter Inborn genetic diseases ⚠
- p.Pro240Leu Single submitter Inborn genetic diseases ⚠
- p.Pro29Ser Single submitter Inborn genetic diseases ⚠
- p.Thr128Met Single submitter ⚠
Benign 23
- c.194-144A>G Multiple submitters
- c.477+29G>C Multiple submitters
- c.477+32G>A Multiple submitters
- c.478-84A>T Multiple submitters
- c.92+44C>T Multiple submitters
- c.-44-155A>C Multiple submitters
- c.-45+319G>T Multiple submitters
- c.-86T>G Multiple submitters
- c.194-315del Single submitter
- c.341+87del Single submitter
- c.342-131A>G Single submitter
- c.342-15dup Single submitter
- c.477+249T>C Single submitter
- c.478-276GCCAGGG[2] Single submitter
- c.478-325G>A Single submitter
- c.702+13G>A Single submitter
- c.703-135del Single submitter
- c.-45+319_-45+320delinsTTAC Single submitter
- c.-45+321_-45+322insAC Single submitter
- p.Ala236Thr Single submitter
- p.Ile58= Single submitter
- p.Ile64= Single submitter
- p.Leu55= Single submitter
Likely benign 87
- c.341+63A>G Multiple submitters
- c.-44-454G>A Multiple submitters
- c.-45+249G>C Multiple submitters
- c.-45+252G>A Multiple submitters
- c.-45+326C>A Multiple submitters
- p.Asp193= Multiple submitters
- p.Ile27= Multiple submitters
- p.Leu3= Multiple submitters
- p.Thr128= Multiple submitters
- p.Thr198= Multiple submitters
- p.Val170= Multiple submitters
- c.193+12A>G Single submitter
- c.194-10T>A Single submitter
- c.194-14C>T Single submitter
- c.194-18del Single submitter
- c.341+10G>A Single submitter
- c.341+10G>T Single submitter
- c.341+12G>A Single submitter
- c.341+17G>A Single submitter
- c.341+7G>C Single submitter
- c.341+7G>T Single submitter
- c.342-10A>C Single submitter
- c.342-4G>A Single submitter
- c.342-5T>C Single submitter
- c.477+16C>T Single submitter
- c.477+20C>A Single submitter
- c.477+8C>T Single submitter
- c.478-12C>T Single submitter
- c.601+10G>A Single submitter
- c.601+10G>C Single submitter
- c.601+15C>T Single submitter
- c.601+16G>A Single submitter
- c.601+9C>T Single submitter
- c.602-11A>G Single submitter
- c.602-16T>C Single submitter
- c.602-4C>T Single submitter
- c.602-9C>G Single submitter
- c.702+12C>T Single submitter
- c.702+14T>C Single submitter
- c.702+8C>T Single submitter
- c.92+10A>G Single submitter
- c.92+293C>T Single submitter
- c.92+7C>T Single submitter
- c.93-10T>G Single submitter
- c.-44-238C>T Single submitter Inborn genetic diseases
- c.-44-248C>T Single submitter
- c.-44-291C>A Single submitter
- c.-44-303C>T Single submitter Inborn genetic diseases
- c.-44-322C>T Single submitter Inborn genetic diseases
- c.-44-357C>T Single submitter
- c.-44-377G>A Single submitter
- c.*44C>T Single submitter
- p.Ala14= Single submitter
- p.Ala143= Single submitter
- p.Ala205= Single submitter
- p.Ala66= Single submitter
- p.Arg118= Single submitter
- p.Arg39Gln Single submitter Inborn genetic diseases ⚠
- p.Arg39Trp Single submitter ⚠
- p.Arg68= Single submitter
- p.Asp164= Single submitter
- p.Asp238= Single submitter
- p.Gly48= Single submitter
- p.Gly87= Single submitter
- p.His230= Single submitter
- p.Leu103= Single submitter
- p.Leu115= Single submitter
- p.Leu119= Single submitter
- p.Leu12= Single submitter
- p.Leu191= Single submitter
- p.Leu202= Single submitter
- p.Leu219= Single submitter
- p.Leu40= Single submitter
- p.Leu61= Single submitter
- p.Lys149= Single submitter
- p.Phe51= Single submitter
- p.Pro25= Single submitter
- p.Pro86= Single submitter
- p.Ser109= Single submitter
- p.Ser124= Single submitter
- p.Ser46= Single submitter
- p.Tyr104= Single submitter
- p.Tyr223= Single submitter
- p.Val57= Single submitter
- c.-12_-10del No assertion criteria BCAP31-related disorder
- c.*4C>G No assertion criteria BCAP31-related disorder
- p.Thr121Ser No assertion criteria
Uncertain significance 81
- p.Arg118Cys Multiple submitters ⚠
- p.Glu245Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly165Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly239Asp Multiple submitters severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome ⚠
- p.Ile56Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu226Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu40Pro Multiple submitters Global developmental delay ⚠
- p.Lys30Arg Multiple submitters Inborn genetic diseases ⚠
- p.Phe52Ser Multiple submitters ⚠
- p.Ser183Ile Multiple submitters ⚠
- p.Thr6Ile Multiple submitters ⚠
- c.342-5T>A Single submitter
- c.477+6C>T Single submitter
- c.477+8del Single submitter severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
- c.601+3G>A Single submitter
- c.703-11T>C Single submitter
- c.-27_-26delinsAT Single submitter
- c.-27T>G Single submitter
- c.-44-256G>T Single submitter BCAP31-related disorder
- c.-44-276A>G Single submitter Inborn genetic diseases
- c.-44-288G>T Single submitter Inborn genetic diseases
- c.-44-297A>T Single submitter Inborn genetic diseases
- c.-44-346C>T Single submitter
- p.Ala106Val Single submitter severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome ⚠
- p.Ala131Pro Single submitter ⚠
- p.Ala14Gly Single submitter ⚠
- p.Ala14Val Single submitter ⚠
- p.Ala235Val Single submitter ⚠
- p.Arg101_Asn102insArg Single submitter
- p.Arg118His Single submitter ⚠
- p.Arg213Trp Single submitter ⚠
- p.Arg225Cys Single submitter ⚠
- p.Arg31Lys Single submitter severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome ⚠
- p.Arg68Cys Single submitter ⚠
- p.Arg71Trp Single submitter ⚠
- p.Arg98Cys Single submitter ⚠
- p.Arg98His Single submitter ⚠
- p.Asp164Glu Single submitter severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome ⚠
- p.Asp224Asn Single submitter ⚠
- p.Asp75del Single submitter
- p.Gln125Arg Single submitter ⚠
- p.Gln208Glu Single submitter ⚠
- p.Glu180Asp Single submitter ⚠
- p.Glu194Lys Single submitter Inborn genetic diseases ⚠
- p.Glu206Gly Single submitter ⚠
- p.Glu245fs Single submitter
- p.Glu69Lys Single submitter Inborn genetic diseases ⚠
- p.Ile105Val Single submitter ⚠
- p.Leu122= Single submitter
- p.Leu12Phe Single submitter ⚠
- p.Leu157Phe Single submitter ⚠
- p.Leu168Phe Single submitter ⚠
- p.Leu184Arg Single submitter ⚠
- p.Leu184Pro Single submitter Inborn genetic diseases ⚠
- p.Leu184Val Single submitter Inborn genetic diseases ⚠
- p.Leu21Pro Single submitter ⚠
- p.Leu40Met Single submitter ⚠
- p.Lys148Arg Single submitter ⚠
- p.Lys158Glu Single submitter ⚠
- p.Lys167Arg Single submitter ⚠
- p.Lys167Glu Single submitter ⚠
- p.Lys221Met Single submitter ⚠
- p.Met151Thr Single submitter ⚠
- p.Met151Val Single submitter ⚠
- p.Met241fs Single submitter
- p.Met241Thr Single submitter ⚠
- p.Phe108Ile Single submitter ⚠
- p.Phe26Leu Single submitter ⚠
- p.Phe52del Single submitter
- p.Pro240Arg Single submitter ⚠
- p.Pro25Ser Single submitter ⚠
- p.Pro25Thr Single submitter ⚠
- p.Thr10Ala Single submitter ⚠
- p.Thr10Pro Single submitter ⚠
- p.Thr220Asn Single submitter ⚠
- p.Tyr73Phe Single submitter ⚠
- p.Val237Leu Single submitter severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome ⚠
- p.Val67Met Single submitter ⚠
- p.Val76Ala Single submitter ⚠
- p.Ala235Thr No assertion criteria BCAP31-related disorder ⚠
- p.Thr77Met No assertion criteria ⚠