ClinVar Miner

Variants with conflicting interpretations studied for Tumor susceptibility linked to germline BAP1 mutations

Coded as:
Minimum review status of the submission for Tumor susceptibility linked to germline BAP1 mutations: Y axis collection method of the submission for Tumor susceptibility linked to germline BAP1 mutations:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
170 158 0 24 28 0 3 52

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Tumor susceptibility linked to germline BAP1 mutations pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 1 0 0
uncertain significance 1 2 0 15 3
likely benign 0 0 18 0 17
benign 0 0 1 18 0

Condition to condition summary #

Total conditions: 10
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
Hereditary cancer-predisposing syndrome 0 161 0 21 22 0 2 44
Tumor susceptibility linked to germline BAP1 mutations 340 21 0 13 6 0 1 19
not specified 0 18 0 13 3 0 0 16
not provided 0 12 0 1 5 0 0 6
Café-au-lait macules with pulmonary stenosis 0 0 0 0 1 0 0 1
Ewing's sarcoma 0 0 0 0 0 0 1 1
Familial cancer of breast 0 2 0 1 0 0 0 1
Neurofibromatosis, familial spinal 0 0 0 0 1 0 0 1
Neurofibromatosis, type 1 0 0 0 1 1 0 0 1
Neurofibromatosis-Noonan syndrome 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 52
Download table as spreadsheet
HGVS dbSNP
NM_000535.7(PMS2):c.1438G>C (p.Gly480Arg) rs146848345
NM_001042492.2(NF1):c.1810T>C (p.Leu604=) rs142712751
NM_004656.3(BAP1):c.-10C>T rs200018055
NM_004656.3(BAP1):c.1002A>G (p.Leu334=) rs28997577
NM_004656.3(BAP1):c.1026C>T (p.Ser342=) rs71651686
NM_004656.3(BAP1):c.1035G>C (p.Gly345=) rs369744075
NM_004656.3(BAP1):c.1117-5C>T rs771441619
NM_004656.3(BAP1):c.1131G>A (p.Leu377=) rs572089064
NM_004656.3(BAP1):c.1202_1203delAT (p.Tyr401Terfs) rs886058705
NM_004656.3(BAP1):c.1212C>G (p.Asp404Glu) rs140998455
NM_004656.3(BAP1):c.121G>A (p.Gly41Ser) rs372586694
NM_004656.3(BAP1):c.1227G>C (p.Val409=) rs201203425
NM_004656.3(BAP1):c.1268C>A (p.Thr423Lys) rs115109161
NM_004656.3(BAP1):c.1320G>A (p.Leu440=) rs77722216
NM_004656.3(BAP1):c.1330A>G (p.Thr444Ala) rs374746213
NM_004656.3(BAP1):c.1407C>T (p.Ser469=) rs150524807
NM_004656.3(BAP1):c.1408G>A (p.Gly470Arg) rs576538858
NM_004656.3(BAP1):c.1427T>C (p.Val476Ala) rs144060813
NM_004656.3(BAP1):c.1497C>T (p.Ile499=) rs777417522
NM_004656.3(BAP1):c.1729+8T>C rs150945583
NM_004656.3(BAP1):c.1735G>A (p.Gly579Arg) rs370004702
NM_004656.3(BAP1):c.177G>A (p.Arg59=) rs770446947
NM_004656.3(BAP1):c.1791C>T (p.Ser597=) rs751730111
NM_004656.3(BAP1):c.1838C>T (p.Thr613Met) rs35448940
NM_004656.3(BAP1):c.186C>T (p.Val62=) rs199608453
NM_004656.3(BAP1):c.1931C>T (p.Ala644Val) rs551399575
NM_004656.3(BAP1):c.1946G>A (p.Cys649Tyr) rs151308667
NM_004656.3(BAP1):c.1962A>C (p.Val654=) rs148624125
NM_004656.3(BAP1):c.1983+6T>C rs1553644657
NM_004656.3(BAP1):c.2057-4G>T rs149499021
NM_004656.3(BAP1):c.2175G>A (p.Lys725=) rs760537008
NM_004656.3(BAP1):c.256-3C>A rs752536342
NM_004656.3(BAP1):c.288G>A (p.Leu96=) rs117382883
NM_004656.3(BAP1):c.341G>A (p.Arg114His) rs773494626
NM_004656.3(BAP1):c.376-4G>A rs369277958
NM_004656.3(BAP1):c.405G>A (p.Pro135=) rs768046980
NM_004656.3(BAP1):c.501G>A (p.Ala167=) rs148631953
NM_004656.3(BAP1):c.519T>C (p.Tyr173=) rs143901408
NM_004656.3(BAP1):c.534C>T (p.Gly178=) rs200285587
NM_004656.3(BAP1):c.581-6C>T rs754576458
NM_004656.3(BAP1):c.651C>T (p.Ala217=) rs202170860
NM_004656.3(BAP1):c.659+3A>C rs878854741
NM_004656.3(BAP1):c.660-10G>A rs749460317
NM_004656.3(BAP1):c.672C>T (p.His224=) rs756217463
NM_004656.3(BAP1):c.783G>A (p.Gln261=) rs35003777
NM_004656.3(BAP1):c.821A>C (p.His274Pro) rs565400314
NM_004656.3(BAP1):c.869A>G (p.Asn290Ser) rs747079481
NM_004656.3(BAP1):c.905C>T (p.Pro302Leu) rs149158790
NM_004656.3(BAP1):c.912C>A (p.Ala304=) rs201809705
NM_004656.3(BAP1):c.960C>T (p.Cys320=) rs143659795
NM_005591.3(MRE11):c.1960_1979dup20 (p.Lys661Thrfs) rs587781442
NM_024675.3(PALB2):c.226delA (p.Ile76Tyrfs) rs587782443

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