Sugi Variant

Sugi Variant/XRCC2

XRCC2 — 803 ClinVar variants

All ClinVar germline XRCC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 461 flagged for review →

2 Pathogenic · 11 Likely pathogenic · 46 Conflicting · 12 Benign · 14 Benign/Likely benign · 194 Likely benign · 524 Uncertain significance

Full XRCC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 461

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 27

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 377

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 377

Predictors split 57

The independent predictors disagree with each other — read with care.

All XRCC2 variants

Pathogenic 2

Likely pathogenic 11

  • c.122-1G>T Single submitter hereditary neoplastic syndrome
  • p.Glu164fs Single submitter hereditary neoplastic syndrome
  • p.Glu56fs Single submitter hereditary neoplastic syndrome
  • p.Glu9fs Single submitter hereditary neoplastic syndrome
  • p.Leu180Ter Single submitter hereditary neoplastic syndrome
  • p.Met1Thr Single submitter hereditary neoplastic syndrome
  • p.Phe80fs Single submitter hereditary neoplastic syndrome
  • p.Ser132Ter Single submitter hereditary neoplastic syndrome
  • p.Ser204fs Single submitter hereditary neoplastic syndrome
  • p.Tyr59fs Single submitter hereditary neoplastic syndrome
  • p.Phe116fs No assertion criteria breast carcinoma

Conflicting classifications of pathogenicity 46

  • c.122-3C>T Single submitter hereditary neoplastic syndrome
  • c.39+1G>A Single submitter hereditary neoplastic syndrome
  • c.39+2T>A Single submitter hereditary neoplastic syndrome
  • c.40-5A>G Single submitter hereditary neoplastic syndrome
  • c.-5G>C Single submitter hereditary neoplastic syndrome
  • p.Ala16Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala8Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg17Ter Single submitter hereditary neoplastic syndrome
  • p.Arg214Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg215Gln Single submitter Fanconi anemia complementation group U ⚠
  • p.Arg215Ter Single submitter Fanconi anemia complementation group U
  • p.Arg258His Single submitter spermatogenic failure 50 ⚠
  • p.Arg64Ter Single submitter spermatogenic failure 50
  • p.Asn161Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn251Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp34= Single submitter hereditary neoplastic syndrome
  • p.Cys217_Asp218delinsTer Single submitter Fanconi anemia complementation group U
  • p.Gln248Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu13Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu207Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu75= Single submitter hereditary neoplastic syndrome
  • p.Glu75Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.His125Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.His6Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile157Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile221Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile95Val Single submitter Fanconi anemia complementation group U ⚠
  • p.Leu117fs Single submitter Fanconi anemia complementation group U
  • p.Leu126fs Single submitter Fanconi anemia complementation group U
  • p.Leu126Ter Single submitter hereditary neoplastic syndrome
  • p.Leu61Ile Single submitter Fanconi anemia complementation group U ⚠
  • p.Lys182fs Single submitter hereditary neoplastic syndrome
  • p.Lys69Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Met199Thr Single submitter Fanconi anemia complementation group U ⚠
  • p.Phe32fs Single submitter hereditary neoplastic syndrome
  • p.Pro209Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser171Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser205Ala Single submitter Fanconi anemia complementation group U ⚠
  • p.Ser206Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser37fs Single submitter hereditary neoplastic syndrome
  • p.Ser3Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr194Met Single submitter premature ovarian failure 17
  • p.Tyr119Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Val118Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Val39Met Single submitter hereditary neoplastic syndrome ⚠
  • p.Val76Ile Single submitter hereditary neoplastic syndrome ⚠

Benign 12

Benign/Likely benign 14

  • c.121+3dup Multiple submitters
  • c.39+8C>G Multiple submitters Fanconi anemia complementation group U
  • c.40-10C>T Multiple submitters Fanconi anemia complementation group U
  • c.40-16T>C Multiple submitters Fanconi anemia complementation group U
  • p.Arg159= Multiple submitters hereditary neoplastic syndrome
  • p.Leu100= Multiple submitters Fanconi anemia complementation group U
  • p.Leu130= Multiple submitters hereditary neoplastic syndrome
  • p.Phe154= Multiple submitters hereditary neoplastic syndrome
  • p.Phe270Val Multiple submitters Fanconi anemia complementation group U
  • p.Ser242= Multiple submitters hereditary neoplastic syndrome
  • p.Ser275= Multiple submitters hereditary neoplastic syndrome
  • p.Thr94= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr226= Multiple submitters hereditary neoplastic syndrome
  • p.Val118= Multiple submitters hereditary neoplastic syndrome

Likely benign 194

  • c.121+8A>G Multiple submitters
  • c.39+12C>T Multiple submitters
  • c.39+13G>C Multiple submitters
  • p.Ala230= Multiple submitters hereditary neoplastic syndrome
  • p.Arg7= Multiple submitters hereditary neoplastic syndrome
  • p.Asn167= Multiple submitters hereditary neoplastic syndrome
  • p.Asn263= Multiple submitters hereditary neoplastic syndrome
  • p.Asp218= Multiple submitters hereditary neoplastic syndrome
  • p.Asp84= Multiple submitters hereditary neoplastic syndrome
  • p.Asp88= Multiple submitters hereditary neoplastic syndrome
  • p.Cys144= Multiple submitters hereditary neoplastic syndrome
  • p.Cys176= Multiple submitters hereditary neoplastic syndrome
  • p.Cys217= Multiple submitters hereditary neoplastic syndrome
  • p.Cys259= Multiple submitters hereditary neoplastic syndrome
  • p.Gln178= Multiple submitters hereditary neoplastic syndrome
  • p.Gln196= Multiple submitters hereditary neoplastic syndrome
  • p.Gln233= Multiple submitters hereditary neoplastic syndrome
  • p.Glu164= Multiple submitters hereditary neoplastic syndrome
  • p.Gly113= Multiple submitters hereditary neoplastic syndrome
  • p.Gly48= Multiple submitters hereditary neoplastic syndrome
  • p.His237= Multiple submitters hereditary neoplastic syndrome
  • p.His86= Multiple submitters hereditary neoplastic syndrome
  • p.Leu145= Multiple submitters hereditary neoplastic syndrome
  • p.Leu151= Multiple submitters hereditary neoplastic syndrome
  • p.Leu168= Multiple submitters hereditary neoplastic syndrome
  • p.Leu234= Multiple submitters hereditary neoplastic syndrome
  • p.Leu90= Multiple submitters hereditary neoplastic syndrome
  • p.Lys109= Multiple submitters hereditary neoplastic syndrome
  • p.Phe240= Multiple submitters hereditary neoplastic syndrome
  • p.Phe241= Multiple submitters hereditary neoplastic syndrome
  • p.Phe87= Multiple submitters hereditary neoplastic syndrome
  • p.Pro225= Multiple submitters hereditary neoplastic syndrome
  • p.Pro49= Multiple submitters hereditary neoplastic syndrome
  • p.Ser152= Multiple submitters hereditary neoplastic syndrome
  • p.Ser203= Multiple submitters hereditary neoplastic syndrome
  • p.Ser204= Multiple submitters hereditary neoplastic syndrome
  • p.Ser250= Multiple submitters hereditary neoplastic syndrome
  • p.Ter281= Multiple submitters hereditary neoplastic syndrome
  • p.Thr197= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr223= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr59= Multiple submitters hereditary neoplastic syndrome
  • p.Val166= Multiple submitters hereditary neoplastic syndrome
  • p.Val76= Multiple submitters hereditary neoplastic syndrome
  • p.Val78= Multiple submitters hereditary neoplastic syndrome
  • c.121+12A>C Single submitter
  • c.121+13A>C Single submitter
  • c.121+13A>G Single submitter
  • c.121+19A>G Single submitter
  • c.121+484C>T Single submitter
  • c.122-13A>T Single submitter
  • c.122-170A>G Single submitter
  • c.122-18T>G Single submitter
  • c.122-20_122-19del Single submitter
  • c.39+10G>A Single submitter
  • c.39+10G>T Single submitter
  • c.39+11C>T Single submitter
  • c.39+12del Single submitter
  • c.39+13G>A Single submitter
  • c.39+191C>T Single submitter
  • c.39+20G>A Single submitter
  • c.39+9C>T Single submitter
  • c.40-10_40-8del Single submitter
  • c.40-12T>C Single submitter
  • c.40-13C>A Single submitter
  • c.40-17CT[2] Single submitter
  • c.40-20C>G Single submitter
  • c.40-5del Single submitter
  • c.40-6del Single submitter
  • c.40-8_40-4del Single submitter
  • c.-10C>T Single submitter
  • c.-14G>A Single submitter
  • c.-15C>G Single submitter
  • c.-16C>T Single submitter
  • c.-17G>T Single submitter
  • c.-27T>C Single submitter
  • c.-29A>G Single submitter
  • c.-30G>A Single submitter
  • c.-32_-31insC Single submitter
  • c.-36A>C Single submitter
  • c.-42G>T Single submitter
  • c.-6G>A Single submitter
  • p.Ala153= Single submitter hereditary neoplastic syndrome
  • p.Ala202= Single submitter hereditary neoplastic syndrome
  • p.Ala212= Single submitter hereditary neoplastic syndrome
  • p.Ala4= Single submitter hereditary neoplastic syndrome
  • p.Ala63= Single submitter hereditary neoplastic syndrome
  • p.Ala8= Single submitter hereditary neoplastic syndrome
  • p.Arg174= Single submitter hereditary neoplastic syndrome
  • p.Arg188= Single submitter hereditary neoplastic syndrome
  • p.Arg215= Single submitter hereditary neoplastic syndrome
  • p.Arg224= Single submitter hereditary neoplastic syndrome
  • p.Arg238= Single submitter hereditary neoplastic syndrome
  • p.Arg258= Single submitter hereditary neoplastic syndrome
  • p.Arg91= Single submitter hereditary neoplastic syndrome
  • p.Asn251= Single submitter hereditary neoplastic syndrome
  • p.Asp149= Single submitter hereditary neoplastic syndrome
  • p.Asp158= Single submitter hereditary neoplastic syndrome
  • p.Asp220= Single submitter hereditary neoplastic syndrome
  • p.Asp245= Single submitter hereditary neoplastic syndrome
  • p.Asp246= Single submitter
  • p.Asp36= Single submitter hereditary neoplastic syndrome
  • p.Asp82= Single submitter
  • p.Cys120= Single submitter
  • p.Cys2= Single submitter hereditary neoplastic syndrome
  • p.Cys280= Single submitter hereditary neoplastic syndrome
  • p.Gln248Pro Single submitter hereditary neoplastic syndrome
  • p.Gln252= Single submitter hereditary neoplastic syndrome
  • p.Glu105= Single submitter hereditary neoplastic syndrome
  • p.Glu106= Single submitter
  • p.Glu181= Single submitter hereditary neoplastic syndrome
  • p.Glu208Gly Single submitter hereditary neoplastic syndrome
  • p.Glu278= Single submitter hereditary neoplastic syndrome
  • p.Glu45= Single submitter hereditary neoplastic syndrome
  • p.Glu9= Single submitter hereditary neoplastic syndrome
  • p.Gly11= Single submitter hereditary neoplastic syndrome
  • p.Gly162= Single submitter hereditary neoplastic syndrome
  • p.Gly20= Single submitter hereditary neoplastic syndrome
  • p.Gly276= Single submitter hereditary neoplastic syndrome
  • p.Gly51= Single submitter hereditary neoplastic syndrome
  • p.Gly53= Single submitter hereditary neoplastic syndrome
  • p.His140= Single submitter hereditary neoplastic syndrome
  • p.His211= Single submitter hereditary neoplastic syndrome
  • p.His211Pro Single submitter hereditary neoplastic syndrome
  • p.His47= Single submitter hereditary neoplastic syndrome
  • p.Ile107= Single submitter hereditary neoplastic syndrome
  • p.Ile147= Single submitter hereditary neoplastic syndrome
  • p.Ile198= Single submitter hereditary neoplastic syndrome
  • p.Ile221Val Single submitter hereditary neoplastic syndrome
  • p.Ile43Val Single submitter hereditary neoplastic syndrome
  • p.Ile81= Single submitter hereditary neoplastic syndrome
  • p.Leu112= Single submitter hereditary neoplastic syndrome
  • p.Leu126= Single submitter hereditary neoplastic syndrome
  • p.Leu127= Single submitter hereditary neoplastic syndrome
  • p.Leu14= Single submitter hereditary neoplastic syndrome
  • p.Leu143= Single submitter hereditary neoplastic syndrome
  • p.Leu183= Single submitter hereditary neoplastic syndrome
  • p.Leu189= Single submitter hereditary neoplastic syndrome
  • p.Leu216= Single submitter hereditary neoplastic syndrome
  • p.Leu216Pro Single submitter hereditary neoplastic syndrome
  • p.Leu227= Single submitter hereditary neoplastic syndrome
  • p.Leu24= Single submitter
  • p.Leu255= Single submitter hereditary neoplastic syndrome
  • p.Leu265= Single submitter
  • p.Leu31= Single submitter hereditary neoplastic syndrome
  • p.Leu61= Single submitter hereditary neoplastic syndrome
  • p.Leu67= Single submitter hereditary neoplastic syndrome
  • p.Leu74= Single submitter hereditary neoplastic syndrome
  • p.Leu79= Single submitter hereditary neoplastic syndrome
  • p.Leu92= Single submitter hereditary neoplastic syndrome
  • p.Lys267= Single submitter
  • p.Met239Ile Single submitter hereditary neoplastic syndrome
  • p.Met89Val Single submitter hereditary neoplastic syndrome
  • p.Phe115= Single submitter hereditary neoplastic syndrome
  • p.Phe192= Single submitter hereditary neoplastic syndrome
  • p.Phe269= Single submitter hereditary neoplastic syndrome
  • p.Pro209= Single submitter hereditary neoplastic syndrome
  • p.Pro29= Single submitter hereditary neoplastic syndrome
  • p.Pro68= Single submitter hereditary neoplastic syndrome
  • p.Ser10= Single submitter hereditary neoplastic syndrome
  • p.Ser121= Single submitter hereditary neoplastic syndrome
  • p.Ser123= Single submitter hereditary neoplastic syndrome
  • p.Ser165= Single submitter hereditary neoplastic syndrome
  • p.Ser171= Single submitter hereditary neoplastic syndrome
  • p.Ser204Asn Single submitter hereditary neoplastic syndrome
  • p.Ser205= Single submitter hereditary neoplastic syndrome
  • p.Ser206= Single submitter hereditary neoplastic syndrome
  • p.Ser210= Single submitter hereditary neoplastic syndrome
  • p.Ser249= Single submitter hereditary neoplastic syndrome
  • p.Ser262= Single submitter hereditary neoplastic syndrome
  • p.Ser264= Single submitter hereditary neoplastic syndrome
  • p.Ser264Asn Single submitter hereditary neoplastic syndrome
  • p.Ser3= Single submitter hereditary neoplastic syndrome
  • p.Ser70= Single submitter hereditary neoplastic syndrome
  • p.Thr12= Single submitter hereditary neoplastic syndrome
  • p.Thr124= Single submitter hereditary neoplastic syndrome
  • p.Thr172= Single submitter hereditary neoplastic syndrome
  • p.Thr194= Single submitter
  • p.Thr195= Single submitter hereditary neoplastic syndrome
  • p.Thr197Ser Single submitter hereditary neoplastic syndrome
  • p.Thr52= Single submitter hereditary neoplastic syndrome
  • p.Thr55= Single submitter hereditary neoplastic syndrome
  • p.Thr62= Single submitter hereditary neoplastic syndrome
  • p.Tyr119= Single submitter
  • p.Tyr131= Single submitter hereditary neoplastic syndrome
  • p.Val160= Single submitter hereditary neoplastic syndrome
  • p.Val184= Single submitter hereditary neoplastic syndrome
  • p.Val219= Single submitter hereditary neoplastic syndrome
  • p.Val39= Single submitter
  • c.122-4430G>T No assertion criteria hereditary neoplastic syndrome
  • c.122-4432A>G No assertion criteria hereditary neoplastic syndrome
  • c.122-840A>G No assertion criteria hereditary neoplastic syndrome
  • c.39+4550T>C No assertion criteria hereditary neoplastic syndrome
  • c.39+7425C>T No assertion criteria hereditary neoplastic syndrome
  • c.40-1611G>A No assertion criteria hereditary neoplastic syndrome

Uncertain significance 524

Showing the top 300 by review status; the full set is in the sitemap.