ClinVar Miner

Variants with conflicting interpretations studied for EGFR-related lung cancer

Coded as:
Minimum review status of the submission for EGFR-related lung cancer: Collection method of the submission for EGFR-related lung cancer:
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 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
2752 147 0 28 21 3 3 53

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
EGFR-related lung cancer likely pathogenic uncertain significance likely benign benign drug response
pathogenic 0 2 0 0 0
likely pathogenic 0 0 0 0 1
uncertain significance 1 0 9 1 2
likely benign 0 8 0 7 0
benign 0 3 21 0 0

Condition to condition summary #

Total conditions: 9
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 87 0 19 9 0 2 29
EGFR-related disorder 0 43 0 8 2 0 0 10
not specified 0 48 0 5 3 0 1 9
Hereditary cancer 0 11 0 0 8 0 0 8
Tyrosine kinase inhibitor response 0 0 0 0 0 3 0 3
Diffuse midline glioma, H3 K27-altered 0 2 0 0 1 0 0 1
Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic 0 0 0 0 0 1 0 1
erlotinib response - Efficacy 0 0 0 0 0 1 0 1
gefitinib response - Efficacy 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 53
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005228.5(EGFR):c.1509C>T (p.Gly503=) rs17336800 0.00859
NM_005228.5(EGFR):c.2047C>T (p.Leu683=) rs55669340 0.00762
NM_005228.5(EGFR):c.2963A>C (p.His988Pro) rs17290699 0.00672
NM_005228.5(EGFR):c.3485G>A (p.Ser1162Asn) rs41321844 0.00362
NM_005228.5(EGFR):c.3210C>T (p.Ser1070=) rs41494749 0.00303
NM_005228.5(EGFR):c.1119G>A (p.Pro373=) rs2302536 0.00293
NM_005228.5(EGFR):c.921C>T (p.Cys307=) rs17289893 0.00276
NM_005228.5(EGFR):c.3015A>G (p.Glu1005=) rs55737335 0.00247
NM_005228.5(EGFR):c.2487G>A (p.Glu829=) rs41420046 0.00198
NM_005228.5(EGFR):c.889+18G>T rs41323746 0.00120
NM_005228.5(EGFR):c.3467A>C (p.His1156Pro) rs149174093 0.00062
NM_005228.5(EGFR):c.2289C>G (p.Ala763=) rs117420095 0.00048
NM_005228.5(EGFR):c.2748C>T (p.Asp916=) rs41396448 0.00046
NM_005228.5(EGFR):c.513C>T (p.Asp171=) rs17289686 0.00036
NM_005228.5(EGFR):c.3629C>T (p.Ala1210Val) rs35918369 0.00034
NM_005228.5(EGFR):c.241-8C>G rs138872748 0.00031
NM_005228.5(EGFR):c.769G>A (p.Glu257Lys) rs138847501 0.00031
NM_005228.5(EGFR):c.1749C>T (p.Ala583=) rs141232284 0.00029
NM_005228.5(EGFR):c.2543C>T (p.Pro848Leu) rs148934350 0.00026
NM_005228.5(EGFR):c.2024G>A (p.Arg675Gln) rs150423237 0.00025
NM_005228.5(EGFR):c.633C>T (p.Thr211=) rs373970245 0.00023
NM_005228.5(EGFR):c.2175G>A (p.Thr725=) rs55959834 0.00020
NM_005228.5(EGFR):c.844G>A (p.Glu282Lys) rs199796955 0.00020
NM_005228.5(EGFR):c.1557G>T (p.Glu519Asp) rs116057045 0.00019
NM_005228.5(EGFR):c.2166G>A (p.Ala722=) rs367694667 0.00012
NM_005228.5(EGFR):c.2885G>A (p.Arg962His) rs144496976 0.00012
NM_005228.5(EGFR):c.61G>A (p.Ala21Thr) rs373129709 0.00011
NM_005228.5(EGFR):c.2457G>A (p.Val819=) rs56183713 0.00010
NM_005228.5(EGFR):c.2304C>T (p.Ser768=) rs778199483 0.00009
NM_005228.5(EGFR):c.2710G>A (p.Val904Ile) rs538497054 0.00009
NM_005228.5(EGFR):c.2169C>T (p.Phe723=) rs370590012 0.00007
NM_005228.5(EGFR):c.1047C>G (p.Leu349=) rs759932677 0.00005
NM_005228.5(EGFR):c.2369C>T (p.Thr790Met) rs121434569 0.00005
NM_005228.5(EGFR):c.1998C>G (p.Leu666=) rs779909747 0.00004
NM_005228.5(EGFR):c.2223C>T (p.Pro741=) rs372772241 0.00004
NM_005228.5(EGFR):c.912C>T (p.His304=) rs182002674 0.00004
NM_005228.5(EGFR):c.739G>A (p.Asp247Asn) rs780001754 0.00003
NM_005228.5(EGFR):c.758A>G (p.Lys253Arg) rs374084791 0.00003
NM_005228.5(EGFR):c.2655A>C (p.Ser885=) rs781112955 0.00002
NM_005228.5(EGFR):c.345T>A (p.Asn115Lys) rs773596817 0.00002
NM_005228.5(EGFR):c.1570G>A (p.Val524Ile) rs587778249 0.00001
NM_005228.5(EGFR):c.2172C>T (p.Gly724=) rs754578411 0.00001
NM_005228.5(EGFR):c.2224G>A (p.Val742Ile) rs587778250 0.00001
NM_005228.5(EGFR):c.2386G>A (p.Gly796Ser) rs754426793 0.00001
NM_005228.5(EGFR):c.292C>T (p.Arg98Ter) rs1794575659 0.00001
NM_005228.5(EGFR):c.3143C>T (p.Ala1048Val) rs78244461 0.00001
NM_005228.5(EGFR):c.869C>T (p.Thr290Ile) rs1020654485 0.00001
NM_005228.5(EGFR):c.1438C>T (p.Leu480=) rs147732025
NM_005228.5(EGFR):c.2155G>A (p.Gly719Ser) rs28929495
NM_005228.5(EGFR):c.2235_2249del (p.Glu746_Ala750del) rs121913421
NM_005228.5(EGFR):c.2652A>G (p.Glu884=) rs1787457978
NM_005228.5(EGFR):c.3245T>G (p.Ile1082Arg) rs1051476261
NM_005228.5(EGFR):c.351T>A (p.Tyr117Ter)

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