TFAP2A — 241 ClinVar variants
All ClinVar germline TFAP2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 92 flagged for review →
12 Pathogenic · 3 Pathogenic/Likely pathogenic · 22 Likely pathogenic · 6 Conflicting · 19 Benign · 7 Benign/Likely benign · 65 Likely benign · 107 Uncertain significance
Full TFAP2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 92
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 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TFAP2A p.Cys347Arg
Conflicting
Single submitter
branchiooculofacial syndrome
-
TFAP2A p.Gln401His
Conflicting
Single submitter
branchiooculofacial syndrome
-
TFAP2A p.Ile158Met
Conflicting
Single submitter
TFAP2A-related disorder
-
TFAP2A p.Pro86Leu
Conflicting
Single submitter
branchiooculofacial syndrome
-
TFAP2A p.Thr35Ala
Conflicting
Single submitter
branchiooculofacial syndrome
Predictors lean, ClinVar uncertain 56
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TFAP2A p.Ala342Pro Uncertain significance Multiple submitters
-
TFAP2A p.Asn287Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TFAP2A p.Asn367His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TFAP2A p.Asn52Ser Uncertain significance Multiple submitters
-
TFAP2A p.Gly168Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TFAP2A p.Pro360Ser Uncertain significance Multiple submitters
-
TFAP2A p.Ser144Pro
Uncertain significance
Multiple submitters
branchiooculofacial syndrome
- TFAP2A p.Ser417Gly Uncertain significance Multiple submitters
- TFAP2A p.Ser430Asn Uncertain significance Multiple submitters
-
TFAP2A p.Val309Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TFAP2A p.Val36Gly Uncertain significance Multiple submitters
- TFAP2A p.Arg283Cys Uncertain significance Single submitter
- TFAP2A p.Arg304Gly Uncertain significance Single submitter
- TFAP2A p.Arg365Gln Uncertain significance Single submitter
- TFAP2A p.Asn10Thr Uncertain significance Single submitter
-
TFAP2A p.Asn79Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- TFAP2A p.Glu298Gly Uncertain significance Single submitter
- TFAP2A p.Gly138Ser Uncertain significance Single submitter
- TFAP2A p.Gly22Val Uncertain significance Single submitter
- TFAP2A p.Gly389Arg Uncertain significance Single submitter
-
TFAP2A p.Gly389Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- TFAP2A p.Gly97Cys Uncertain significance Single submitter
- TFAP2A p.His137Asn Uncertain significance Single submitter
- TFAP2A p.His386Gln Uncertain significance Single submitter
-
TFAP2A p.His423Gln
Uncertain significance
Single submitter
branchiooculofacial syndrome
- TFAP2A p.His95Leu Uncertain significance Single submitter
-
TFAP2A p.Ile169Met
Uncertain significance
Single submitter
branchiooculofacial syndrome
-
TFAP2A p.Ile274Val
Uncertain significance
Single submitter
branchiooculofacial syndrome
-
TFAP2A p.Leu271Arg
Uncertain significance
Single submitter
TFAP2A-related disorder
- TFAP2A p.Leu271Val Uncertain significance Single submitter
- TFAP2A p.Leu291Arg Uncertain significance Single submitter
- TFAP2A p.Leu294Gln Uncertain significance Single submitter
- TFAP2A p.Leu302Val Uncertain significance Single submitter
- TFAP2A p.Leu383Phe Uncertain significance Single submitter
- TFAP2A p.Leu404Val Uncertain significance Single submitter
-
TFAP2A p.Leu87Val
Uncertain significance
Single submitter
Inborn genetic diseases
- TFAP2A p.Lys259Arg Uncertain significance Single submitter
-
TFAP2A p.Lys259Asn
Uncertain significance
Single submitter
branchiooculofacial syndrome
- TFAP2A p.Lys409Thr Uncertain significance Single submitter
-
TFAP2A p.Pro167Thr
Uncertain significance
Single submitter
branchiooculofacial syndrome
- TFAP2A p.Pro360Arg Uncertain significance Single submitter
- TFAP2A p.Pro40Ser Uncertain significance Single submitter
-
TFAP2A p.Pro51Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TFAP2A p.Pro91Ser
Uncertain significance
Single submitter
branchiooculofacial syndrome
- TFAP2A p.Pro99Ser Uncertain significance Single submitter
- TFAP2A p.Ser143Asn Uncertain significance Single submitter
- TFAP2A p.Ser293Pro Uncertain significance Single submitter
- TFAP2A p.Ser71Thr Uncertain significance Single submitter
- TFAP2A p.Thr226Ser Uncertain significance Single submitter
- TFAP2A p.Thr27Met Uncertain significance Single submitter
- TFAP2A p.Thr398Lys Uncertain significance Single submitter
- TFAP2A p.Thr50Pro Uncertain significance Single submitter
-
TFAP2A p.Tyr308His
Uncertain significance
Single submitter
Inborn genetic diseases
-
TFAP2A p.Val288Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- TFAP2A p.Val78Ile Uncertain significance Single submitter
-
TFAP2A p.Thr424Met
Uncertain significance
No assertion criteria
TFAP2A-related disorder
Predictors split 31
The independent predictors disagree with each other — read with care.
-
TFAP2A p.Gly108Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TFAP2A p.Thr398Met
Uncertain significance
Multiple submitters
branchiooculofacial syndrome
- TFAP2A p.Arg131Gly Uncertain significance Single submitter
-
TFAP2A p.Asn363Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TFAP2A p.Asn382Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- TFAP2A p.Asp54Asn Uncertain significance Single submitter
-
TFAP2A p.Asp80Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- TFAP2A p.Gln119Leu Uncertain significance Single submitter
-
TFAP2A p.Gln174Pro
Uncertain significance
Single submitter
branchiooculofacial syndrome
- TFAP2A p.Gln65His Uncertain significance Single submitter
- TFAP2A p.Glu14Lys Uncertain significance Single submitter
- TFAP2A p.Gly138Cys Uncertain significance Single submitter
-
TFAP2A p.Gly168Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- TFAP2A p.Gly168Asp Uncertain significance Single submitter
- TFAP2A p.Gly180Ser Uncertain significance Single submitter
-
TFAP2A p.His152Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TFAP2A p.His156Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- TFAP2A p.His88Asp Uncertain significance Single submitter
- TFAP2A p.Ile151Asn Uncertain significance Single submitter
- TFAP2A p.Leu87Arg Uncertain significance Single submitter
- TFAP2A p.Lys429Glu Uncertain significance Single submitter
- TFAP2A p.Pro368Ala Uncertain significance Single submitter
-
TFAP2A p.Pro51Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- TFAP2A p.Pro51Leu Uncertain significance Single submitter
-
TFAP2A p.Pro74Thr
Uncertain significance
Single submitter
branchiooculofacial syndrome
- TFAP2A p.Pro81Arg Uncertain significance Single submitter
- TFAP2A p.Pro81Ser Uncertain significance Single submitter
- TFAP2A p.Pro99Leu Uncertain significance Single submitter
-
TFAP2A p.Ser153Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- TFAP2A p.Thr8Met Uncertain significance Single submitter
-
TFAP2A p.Leu109Arg
Uncertain significance
No assertion criteria
TFAP2A-related disorder
All TFAP2A variants
Pathogenic 12
- p.Arg239Pro Multiple submitters branchiooculofacial syndrome
- p.Arg325Ter Multiple submitters branchiooculofacial syndrome
- p.Lys348fs Multiple submitters amblyopia
- p.Arg219Ser Single submitter branchiooculofacial syndrome
- p.Arg238Pro Single submitter
- p.Gly264Glu Single submitter branchiooculofacial syndrome
- p.Pro279fs Single submitter branchiooculofacial syndrome
- p.Ser293fs Single submitter TFAP2A-related disorder
- p.Val161fs Single submitter branchiooculofacial syndrome
- p.Glu235_Arg238del No assertion criteria branchiooculofacial syndrome
- p.Glu298Lys No assertion criteria branchiooculofacial syndrome
- p.Leu278_Arg283delinsArgIle No assertion criteria branchiooculofacial syndrome
Pathogenic/Likely pathogenic 3
- p.Ala258Val Multiple submitters Inborn genetic diseases
- p.Arg239Gln Multiple submitters Inborn genetic diseases
- p.Leu251Pro Multiple submitters branchiooculofacial syndrome
Likely pathogenic 22
- c.771-2_771-1del Multiple submitters Inborn genetic diseases
- p.Gln32Ter Multiple submitters branchiooculofacial syndrome
- p.Glu235Lys Multiple submitters branchiooculofacial syndrome
- p.His386Tyr Multiple submitters Inborn genetic diseases
- c.486+1G>T Single submitter branchiooculofacial syndrome
- c.771-3C>G Single submitter branchiooculofacial syndrome
- c.889+2dup Single submitter branchiooculofacial syndrome
- p.Ala299Asp Single submitter
- p.Ala299Pro Single submitter branchiooculofacial syndrome
- p.Arg29fs Single submitter branchiooculofacial syndrome
- p.Asn338fs Single submitter
- p.Cys347fs Single submitter branchiooculofacial syndrome
- p.Glu244Lys Single submitter branchiooculofacial syndrome
- p.Gly263Ter Single submitter TFAP2A-related disorder
- p.Leu267Ser Single submitter
- p.Lys261Glu Single submitter branchiooculofacial syndrome
- p.Pro139fs Single submitter branchiooculofacial syndrome
- p.Ter440Trp Single submitter branchiooculofacial syndrome
- p.Thr343Ile Single submitter branchiooculofacial syndrome
- p.Trp5Ter Single submitter branchio-oto-renal syndrome
- p.Tyr68Ter Single submitter branchiooculofacial syndrome
- c.486+1G>A No assertion criteria branchiooculofacial syndrome
Conflicting classifications of pathogenicity 6
- p.Cys347Arg Single submitter branchiooculofacial syndrome ⚠
- p.Gln401His Single submitter branchiooculofacial syndrome ⚠
- p.Ile158Met Single submitter TFAP2A-related disorder ⚠
- p.Lys178= Single submitter branchiooculofacial syndrome
- p.Pro86Leu Single submitter branchiooculofacial syndrome ⚠
- p.Thr35Ala Single submitter branchiooculofacial syndrome ⚠
Benign 19
- c.1032-44T>A Multiple submitters branchiooculofacial syndrome
- p.Asn421= Multiple submitters
- c.1031+233del Single submitter
- c.33+175G>A Single submitter
- c.51+124C>A Single submitter
- c.51+168C>G Single submitter
- c.51+173A>G Single submitter
- c.52-1046C>T Single submitter
- c.52-1620A>G Single submitter
- c.52-2168del Single submitter
- c.52-2220C>T Single submitter
- c.771-230C>T Single submitter
- c.771-340A>G Single submitter
- c.889+286_889+287insTC Single submitter
- c.890-215_890-213del Single submitter
- c.-83G>C Single submitter
- c.*333dup Single submitter
- p.His163Asp Single submitter
- p.Thr351= Single submitter
Benign/Likely benign 7
- c.51+8C>T Multiple submitters
- p.Ala395= Multiple submitters
- p.Leu116= Multiple submitters
- p.Leu142= Multiple submitters branchiooculofacial syndrome
- p.Leu276= Multiple submitters branchiooculofacial syndrome
- p.Leu47= Multiple submitters branchiooculofacial syndrome
- p.Tyr308= Multiple submitters branchiooculofacial syndrome
Likely benign 65
- c.1031+18A>G Multiple submitters
- c.1031+63C>T Multiple submitters
- c.487-20T>C Multiple submitters
- c.51+20G>T Multiple submitters branchiooculofacial syndrome
- c.771-20C>T Multiple submitters
- c.889+73T>C Multiple submitters branchiooculofacial syndrome
- c.-14G>C Multiple submitters
- c.*139T>C Multiple submitters
- c.*88C>A Multiple submitters
- p.Glu434= Multiple submitters
- p.Phe306= Multiple submitters branchiooculofacial syndrome
- p.Ser328= Multiple submitters
- p.Thr405= Multiple submitters branchiooculofacial syndrome
- c.1031+14C>T Single submitter
- c.1031+21G>A Single submitter
- c.1032-11T>C Single submitter
- c.33+10del Single submitter
- c.486+17C>T Single submitter
- c.486+4A>G Single submitter
- c.487-19G>C Single submitter
- c.51+8C>A Single submitter
- c.52-1222C>T Single submitter
- c.52-14T>A Single submitter
- c.52-1865G>C Single submitter
- c.771-17A>G Single submitter
- c.889+14C>T Single submitter
- c.889+16T>C Single submitter
- c.889+317_889+321del Single submitter
- c.889+82T>G Single submitter
- c.890-11C>T Single submitter
- c.890-17C>G Single submitter
- c.890-6T>C Single submitter
- p.Ala299= Single submitter
- p.Ala318= Single submitter
- p.Ala396= Single submitter
- p.Ala407= Single submitter
- p.Arg114= Single submitter
- p.Arg127= Single submitter
- p.Arg131= Single submitter
- p.Arg358= Single submitter
- p.Arg365= Single submitter
- p.Asn10= Single submitter
- p.Cys310= Single submitter
- p.Cys394= Single submitter
- p.Glu165Gln Single submitter branchiooculofacial syndrome
- p.Gly145= Single submitter
- p.Gly147= Single submitter
- p.His88= Single submitter
- p.Ile158Val Single submitter
- p.Ile384= Single submitter
- p.Leu136= Single submitter
- p.Leu383= Single submitter
- p.Leu7= Single submitter
- p.Pro167= Single submitter branchiooculofacial syndrome
- p.Pro243= Single submitter
- p.Pro391= Single submitter
- p.Pro61= Single submitter
- p.Pro93= Single submitter
- p.Pro99= Single submitter
- p.Ser144= Single submitter
- p.Ser390= Single submitter
- p.Thr175= Single submitter
- p.Thr27= Single submitter
- p.Thr398= Single submitter
- p.Tyr82= Single submitter
Uncertain significance 107
- p.Ala342Pro Multiple submitters ⚠
- p.Asn287Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn367His Multiple submitters Inborn genetic diseases ⚠
- p.Asn52Ser Multiple submitters ⚠
- p.Asp329Asn Multiple submitters branchiooculofacial syndrome
- p.Gly108Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly168Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro360Ser Multiple submitters ⚠
- p.Pro81Ala Multiple submitters branchiooculofacial syndrome
- p.Ser144Pro Multiple submitters branchiooculofacial syndrome ⚠
- p.Ser39Phe Multiple submitters branchiooculofacial syndrome
- p.Ser417Gly Multiple submitters ⚠
- p.Ser430Asn Multiple submitters ⚠
- p.Thr398Met Multiple submitters branchiooculofacial syndrome ⚠
- p.Val309Met Multiple submitters Inborn genetic diseases ⚠
- p.Val36Gly Multiple submitters ⚠
- c.1031+2dup Single submitter
- c.889+4A>C Single submitter
- p.Arg114Pro Single submitter
- p.Arg131Gly Single submitter ⚠
- p.Arg283Cys Single submitter ⚠
- p.Arg304Gly Single submitter ⚠
- p.Arg365Gln Single submitter ⚠
- p.Asn10Asp Single submitter
- p.Asn10Thr Single submitter ⚠
- p.Asn363Ser Single submitter Inborn genetic diseases ⚠
- p.Asn367Tyr Single submitter Inborn genetic diseases
- p.Asn382Ser Single submitter Inborn genetic diseases ⚠
- p.Asn79Ser Single submitter Inborn genetic diseases ⚠
- p.Asp15Ala Single submitter branchiooculofacial syndrome
- p.Asp425fs Single submitter
- p.Asp54Asn Single submitter ⚠
- p.Asp80Asn Single submitter Inborn genetic diseases ⚠
- p.Gln119Leu Single submitter ⚠
- p.Gln174Pro Single submitter branchiooculofacial syndrome ⚠
- p.Gln65His Single submitter ⚠
- p.Glu14Lys Single submitter ⚠
- p.Glu298Gly Single submitter ⚠
- p.Glu406fs Single submitter
- p.Gly108Trp Single submitter branchiooculofacial syndrome
- p.Gly138Cys Single submitter ⚠
- p.Gly138Ser Single submitter ⚠
- p.Gly168Arg Single submitter Inborn genetic diseases ⚠
- p.Gly168Asp Single submitter ⚠
- p.Gly180Ser Single submitter ⚠
- p.Gly22Val Single submitter ⚠
- p.Gly389Arg Single submitter ⚠
- p.Gly389Cys Single submitter Inborn genetic diseases ⚠
- p.Gly97Cys Single submitter ⚠
- p.His137Asn Single submitter ⚠
- p.His152Tyr Single submitter Inborn genetic diseases ⚠
- p.His156Leu Single submitter Inborn genetic diseases ⚠
- p.His386Gln Single submitter ⚠
- p.His423Gln Single submitter branchiooculofacial syndrome ⚠
- p.His88Asp Single submitter ⚠
- p.His95Leu Single submitter ⚠
- p.Ile151Asn Single submitter ⚠
- p.Ile169Met Single submitter branchiooculofacial syndrome ⚠
- p.Ile274Val Single submitter branchiooculofacial syndrome ⚠
- p.Leu271Arg Single submitter TFAP2A-related disorder ⚠
- p.Leu271Val Single submitter ⚠
- p.Leu291Arg Single submitter ⚠
- p.Leu294Gln Single submitter ⚠
- p.Leu302Val Single submitter ⚠
- p.Leu383Phe Single submitter ⚠
- p.Leu404Val Single submitter ⚠
- p.Leu87Arg Single submitter ⚠
- p.Leu87Val Single submitter Inborn genetic diseases ⚠
- p.Lys259Arg Single submitter ⚠
- p.Lys259Asn Single submitter branchiooculofacial syndrome ⚠
- p.Lys344= Single submitter
- p.Lys409Thr Single submitter ⚠
- p.Lys429Glu Single submitter ⚠
- p.Pro167Thr Single submitter branchiooculofacial syndrome ⚠
- p.Pro360Arg Single submitter ⚠
- p.Pro368Ala Single submitter ⚠
- p.Pro40Ser Single submitter ⚠
- p.Pro420Arg Single submitter
- p.Pro51Ala Single submitter Inborn genetic diseases ⚠
- p.Pro51Arg Single submitter Inborn genetic diseases ⚠
- p.Pro51Leu Single submitter ⚠
- p.Pro74Thr Single submitter branchiooculofacial syndrome ⚠
- p.Pro81Arg Single submitter ⚠
- p.Pro81Ser Single submitter ⚠
- p.Pro91Ser Single submitter branchiooculofacial syndrome ⚠
- p.Pro99Leu Single submitter ⚠
- p.Pro99Ser Single submitter ⚠
- p.Ser104_Gln105dup Single submitter
- p.Ser143Asn Single submitter ⚠
- p.Ser153Cys Single submitter Inborn genetic diseases ⚠
- p.Ser293Pro Single submitter ⚠
- p.Ser71Thr Single submitter ⚠
- p.Ser83Asn Single submitter
- p.Thr226Ser Single submitter ⚠
- p.Thr27Met Single submitter ⚠
- p.Thr398Lys Single submitter ⚠
- p.Thr50Pro Single submitter ⚠
- p.Thr8Met Single submitter ⚠
- p.Trp5Phe Single submitter
- p.Tyr308His Single submitter Inborn genetic diseases ⚠
- p.Val288Ile Single submitter Inborn genetic diseases ⚠
- p.Val78Ile Single submitter ⚠
- c.52-1249A>G No assertion criteria TFAP2A-related disorder
- p.Leu109Arg No assertion criteria TFAP2A-related disorder ⚠
- p.Ter440TrpextTer? No assertion criteria Neurodevelopmental abnormality
- p.Thr424Met No assertion criteria TFAP2A-related disorder ⚠
- p.Tyr403Ter No assertion criteria TFAP2A-related disorder