ClinVar Miner

Variants with conflicting interpretations studied for Inherited breast cancer and ovarian cancer

Minimum review status of the submission for Inherited breast cancer and ovarian cancer: Collection method of the submission for Inherited breast cancer and ovarian cancer:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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 per condition Variants with at least 2 submissions on the same condition 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 conflict
85 162 2 44 32 0 18 83

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
Inherited breast cancer and ovarian cancer pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 2 13 5 0 0
likely pathogenic 14 0 4 0 1
uncertain significance 6 7 0 9 1
likely benign 0 0 15 0 4
benign 0 0 8 14 0

Condition to condition summary #

Total conditions: 22
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition 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 conflict
not provided 0 163 0 36 28 0 15 73
not specified 0 29 0 12 18 0 3 31
Breast and/or ovarian cancer 0 78 0 15 3 0 2 20
BRCA2-related disorder 0 23 0 3 1 0 2 6
CHEK2-related disorder 0 2 0 4 0 0 2 6
Breast cancer, susceptibility to 0 1 1 1 0 0 1 3
Breast and colorectal cancer, susceptibility to 0 2 0 1 0 0 1 2
Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complementation group O 0 1 0 1 1 0 0 2
Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3; Breast-ovarian cancer, familial, susceptibility to, 5 0 5 0 2 0 0 0 2
Hereditary cancer 0 1 0 0 2 0 0 2
Inherited ovarian cancer (without breast cancer) 0 30 0 2 0 0 0 2
PALB2-related disorder 0 7 0 2 0 0 0 2
Breast cancer, susceptibility to; Prostate cancer susceptibility 0 0 0 1 0 0 0 1
CHEK2-related cancer risk 0 0 0 0 0 0 1 1
Inherited breast cancer and ovarian cancer 298 31 0 1 0 0 0 1
Pancreatic cancer, susceptibility to 0 0 1 0 0 0 0 1
Pancreatic cancer, susceptibility to, 3; Breast-ovarian cancer, familial, susceptibility to, 5 0 0 0 1 0 0 0 1
Predisposition to cancer 0 3 0 1 0 0 0 1
RAD51C-related disorder 0 1 0 0 1 0 0 1
TUMOR PREDISPOSITION SYNDROME 4, BREAST 0 0 0 0 0 0 1 1
TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE 0 0 0 1 0 0 0 1
autosomal dominant PALB2-related cancer predisposition 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 83
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.5406+8T>C rs55946644 0.00474
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00079
NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr) rs55808233 0.00051
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro) rs28897701 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_007294.4(BRCA1):c.548-17G>T rs80358014 0.00028
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_024675.4(PALB2):c.1000T>G (p.Tyr334Asp) rs202241382 0.00023
NM_000059.4(BRCA2):c.7712A>G (p.Glu2571Gly) rs55689095 0.00018
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00018
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656 0.00014
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser) rs80358765 0.00013
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val) rs149331537 0.00012
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_000059.4(BRCA2):c.517-4C>G rs81002804 0.00008
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000059.4(BRCA2):c.6541G>C (p.Gly2181Arg) rs371067421 0.00006
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr) rs80359052 0.00005
NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg) rs28897758 0.00005
NM_007294.4(BRCA1):c.661G>T (p.Ala221Ser) rs80357088 0.00004
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000059.4(BRCA2):c.10089A>G (p.Ile3363Met) rs80358390 0.00003
NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu) rs397507330 0.00003
NM_000059.4(BRCA2):c.4436G>C (p.Ser1479Thr) rs80358678 0.00003
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000059.4(BRCA2):c.9271G>A (p.Val3091Ile) rs80359194 0.00003
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter) rs387906843 0.00003
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter) rs587780104 0.00003
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs) rs730881700 0.00003
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192 0.00003
NM_007294.4(BRCA1):c.612G>C (p.Leu204Phe) rs80357394 0.00003
NM_000059.4(BRCA2):c.3299A>T (p.Asn1100Ile) rs80358575 0.00002
NM_000059.4(BRCA2):c.5896C>T (p.His1966Tyr) rs80358822 0.00002
NM_002878.4(RAD51D):c.363del (p.Ala122fs) rs730881935 0.00002
NM_007294.4(BRCA1):c.2060A>C (p.Gln687Pro) rs28897680 0.00002
NM_007294.4(BRCA1):c.2525A>G (p.Glu842Gly) rs28897684 0.00002
NM_024675.4(PALB2):c.2752C>T (p.Pro918Ser) rs515726094 0.00002
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter) rs587779865 0.00001
NM_000051.4(ATM):c.9023G>A (p.Arg3008His) rs587781894 0.00001
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His) rs56404215 0.00001
NM_000059.4(BRCA2):c.2698A>G (p.Asn900Asp) rs55736268 0.00001
NM_000059.4(BRCA2):c.3340C>T (p.Leu1114Phe) rs1468014859 0.00001
NM_000059.4(BRCA2):c.6271A>C (p.Ser2091Arg) rs398122550 0.00001
NM_000059.4(BRCA2):c.6540G>C (p.Leu2180Phe) rs398122560 0.00001
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014 0.00001
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076 0.00001
NM_000059.4(BRCA2):c.8952A>G (p.Ser2984=) rs876660709 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000059.4(BRCA2):c.9649-9T>G rs765352313 0.00001
NM_007294.4(BRCA1):c.4986+6T>C rs80358086 0.00001
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) rs180177100 0.00001
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter) rs180177083 0.00001
NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter) rs180177122 0.00001
NM_000051.4(ATM):c.2639-22_2639-20del rs1064795554
NM_000051.4(ATM):c.349del (p.Cys117fs)
NM_000059.4(BRCA2):c.1888dup (p.Thr630fs) rs80359314
NM_000059.4(BRCA2):c.2629C>G (p.Pro877Ala) rs80358524
NM_000059.4(BRCA2):c.262_263del (p.Leu88fs) rs276174825
NM_000059.4(BRCA2):c.2976del (p.Lys992fs) rs1060502391
NM_000059.4(BRCA2):c.3949A>T (p.Thr1317Ser) rs398122773
NM_000059.4(BRCA2):c.467A>C (p.Asp156Ala) rs68071147
NM_000059.4(BRCA2):c.5737T>G (p.Cys1913Gly) rs80358799
NM_000059.4(BRCA2):c.5862_5863del (p.Ser1955fs) rs786202700
NM_000059.4(BRCA2):c.767C>T (p.Thr256Ile) rs1064794265
NM_000059.4(BRCA2):c.8072C>T (p.Ser2691Phe) rs80359047
NM_000059.4(BRCA2):c.8331+1G>A rs81002837
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser) rs80359165
NM_007194.4(CHEK2):c.1115C>G (p.Ser372Cys) rs147877722
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.591del (p.Val198fs) rs587782245
NM_007294.4(BRCA1):c.3668_3671dup (p.Cys1225fs) rs80357797
NM_007294.4(BRCA1):c.4096+3A>G rs80358015
NM_007294.4(BRCA1):c.4357+6T>C rs80358143
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg) rs80357299
NM_024675.4(PALB2):c.1317del (p.Phe440fs) rs515726067
NM_024675.4(PALB2):c.682del (p.Gln228fs) rs1567222523
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410

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