ClinVar Miner

Variants with conflicting interpretations studied for Fanconi anemia, complementation group J

Coded as:
Minimum review status of the submission for Fanconi anemia, complementation group J: Y axis collection method of the submission for Fanconi anemia, complementation group J:
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
18 61 0 38 26 0 4 60

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
Fanconi anemia, complementation group J pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 4 1 0 0
likely pathogenic 8 0 2 0 0
uncertain significance 1 1 0 17 4
likely benign 0 0 9 0 18
benign 0 0 0 10 0

Condition to condition summary #

Total conditions: 14
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 76 0 21 16 0 1 38
not provided 0 50 0 16 6 0 2 24
Familial cancer of breast; Fanconi anemia, complementation group J 0 81 0 18 4 0 1 23
not specified 0 30 0 16 6 0 0 22
Fanconi anemia 0 0 0 6 7 0 0 13
Neoplasm of the breast 0 0 0 5 7 0 1 13
Breast cancer, early-onset 0 0 0 1 0 0 1 2
Fanconi anemia, complementation group J 123 14 0 2 0 0 0 2
Neoplasm of ovary 0 83 0 2 0 0 0 2
BRIP1-Related Disorders 0 2 0 1 0 0 0 1
Diffuse intrinsic pontine glioma 0 0 0 1 0 0 0 1
Familial cancer of breast 0 3 0 0 1 0 0 1
Familial cancer of breast; Fanconi anemia, complementation group J; Tracheoesophageal fistula 0 0 0 1 0 0 0 1
Hereditary breast and ovarian cancer syndrome 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 60
Download table as spreadsheet
HGVS dbSNP
NM_032043.2(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097
NM_032043.2(BRIP1):c.1141-94G>T rs114901675
NM_032043.2(BRIP1):c.1240C>T (p.Gln414Ter) rs368796923
NM_032043.2(BRIP1):c.139C>G (p.Pro47Ala) rs28903098
NM_032043.2(BRIP1):c.1433A>G (p.His478Arg) rs45501097
NM_032043.2(BRIP1):c.1455T>C (p.Ala485=) rs773489367
NM_032043.2(BRIP1):c.1629-3T>C rs587780828
NM_032043.2(BRIP1):c.1735C>T (p.Arg579Cys) rs28997571
NM_032043.2(BRIP1):c.1853_1854insG (p.Pro619Thrfs) rs587781985
NM_032043.2(BRIP1):c.1890A>G (p.Thr630=) rs145796331
NM_032043.2(BRIP1):c.1935+11_1935+13delGTT rs730881641
NM_032043.2(BRIP1):c.1941G>C (p.Trp647Cys) rs786202760
NM_032043.2(BRIP1):c.195A>G (p.Gln65=) rs141436143
NM_032043.2(BRIP1):c.1A>G (p.Met1Val) rs764585550
NM_032043.2(BRIP1):c.2038_2039dupTT (p.Leu680Phefs) rs587778134
NM_032043.2(BRIP1):c.205+1delG rs1057517648
NM_032043.2(BRIP1):c.206-21T>C rs2048717
NM_032043.2(BRIP1):c.2097+7G>A rs4988352
NM_032043.2(BRIP1):c.2097+8A>C rs730881642
NM_032043.2(BRIP1):c.2111T>A (p.Leu704Ter) rs1057517643
NM_032043.2(BRIP1):c.2220G>T (p.Gln740His) rs45589637
NM_032043.2(BRIP1):c.2232C>T (p.Asp744=) rs374362388
NM_032043.2(BRIP1):c.2236A>G (p.Ile746Val) rs111536363
NM_032043.2(BRIP1):c.2286T>C (p.Arg762=) rs61754141
NM_032043.2(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
NM_032043.2(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624
NM_032043.2(BRIP1):c.2637A>G (p.Glu879=) rs4986765
NM_032043.2(BRIP1):c.2706A>G (p.Ile902Met) rs587780244
NM_032043.2(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764
NM_032043.2(BRIP1):c.2765T>G (p.Leu922Ter) rs587782410
NM_032043.2(BRIP1):c.2854A>G (p.Ile952Val) rs200239986
NM_032043.2(BRIP1):c.2902A>G (p.Lys968Glu) rs587782679
NM_032043.2(BRIP1):c.290_293delACAA (p.Asn97Metfs) rs763009188
NM_032043.2(BRIP1):c.2937A>G (p.Lys979=) rs75091137
NM_032043.2(BRIP1):c.297C>T (p.Asp99=) rs201617644
NM_032043.2(BRIP1):c.2990_2993delCAAA (p.Thr997Argfs) rs771028677
NM_032043.2(BRIP1):c.3099T>C (p.Pro1033=) rs202228407
NM_032043.2(BRIP1):c.3103C>T (p.Arg1035Cys) rs45437094
NM_032043.2(BRIP1):c.312T>G (p.Thr104=) rs769190318
NM_032043.2(BRIP1):c.316C>T (p.Arg106Cys) rs587780247
NM_032043.2(BRIP1):c.3378A>C (p.Glu1126Asp) rs145855459
NM_032043.2(BRIP1):c.3411T>C (p.Tyr1137=) rs4986763
NM_032043.2(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573
NM_032043.2(BRIP1):c.3459T>C (p.Asp1153=) rs4987050
NM_032043.2(BRIP1):c.36G>T (p.Gly12=) rs45566938
NM_032043.2(BRIP1):c.380-17dupT rs545021924
NM_032043.2(BRIP1):c.380-5A>G rs587782131
NM_032043.2(BRIP1):c.430G>A (p.Ala144Thr) rs116952709
NM_032043.2(BRIP1):c.517C>T (p.Arg173Cys) rs4988345
NM_032043.2(BRIP1):c.577G>A (p.Val193Ile) rs4988346
NM_032043.2(BRIP1):c.584T>C (p.Leu195Pro) rs4988347
NM_032043.2(BRIP1):c.612C>G (p.Ser204=) rs587780832
NM_032043.2(BRIP1):c.679C>G (p.Gln227Glu) rs45459799
NM_032043.2(BRIP1):c.689C>T (p.Ser230Leu) rs759031349
NM_032043.2(BRIP1):c.702G>A (p.Lys234=) rs45512798
NM_032043.2(BRIP1):c.728T>C (p.Ile243Thr) rs587781860
NM_032043.2(BRIP1):c.852C>T (p.Val284=) rs144940449
NM_032043.2(BRIP1):c.854A>G (p.His285Arg) rs141055990
NM_032043.2(BRIP1):c.890A>G (p.Lys297Arg) rs28997570
NM_032043.2(BRIP1):c.918+15T>A rs117820198

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