ClinVar Miner

Variants in gene SMARCA2 with conflicting interpretations

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Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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
974 94 0 54 18 1 5 74

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.

pathogenic likely pathogenic uncertain significance likely benign benign protective other
pathogenic 0 4 2 0 0 0 0
likely pathogenic 4 0 2 0 0 0 0
uncertain significance 3 3 0 17 4 1 1
likely benign 0 0 16 0 50 0 0
benign 0 0 3 50 0 0 0

All variants with conflicting interpretations #

Total variants: 74
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003070.5(SMARCA2):c.3672G>A (p.Glu1224=) rs6601 0.24705
NM_003070.5(SMARCA2):c.4638C>G (p.Asp1546Glu) rs2296212 0.17040
NM_003070.5(SMARCA2):c.174G>A (p.Pro58=) rs10964470 0.04780
NM_003070.5(SMARCA2):c.717G>A (p.Pro239=) rs10964525 0.02801
NM_003070.5(SMARCA2):c.4590C>T (p.Ser1530=) rs77070978 0.01166
NM_003070.5(SMARCA2):c.462G>A (p.Gly154=) rs61736900 0.00974
NM_003070.5(SMARCA2):c.1522-19G>A rs141618610 0.00554
NM_003070.5(SMARCA2):c.666A>G (p.Gln222=) rs13296987 0.00541
NM_003070.5(SMARCA2):c.4360-16C>G rs142175015 0.00500
NM_003070.5(SMARCA2):c.3843C>T (p.Pro1281=) rs61736902 0.00490
NM_003070.5(SMARCA2):c.3555C>T (p.Leu1185=) rs78868042 0.00444
NM_003070.5(SMARCA2):c.2733A>G (p.Gln911=) rs146829604 0.00409
NM_003070.5(SMARCA2):c.2136G>A (p.Val712=) rs147739329 0.00159
NM_003070.5(SMARCA2):c.513C>A (p.Pro171=) rs148002538 0.00152
NM_003070.5(SMARCA2):c.4761G>A (p.Thr1587=) rs146702999 0.00143
NM_003070.5(SMARCA2):c.844G>A (p.Ala282Thr) rs929861388 0.00122
NM_003070.5(SMARCA2):c.1122C>G (p.Thr374=) rs138404604 0.00108
NM_003070.5(SMARCA2):c.3438C>T (p.Ser1146=) rs62534896 0.00088
NM_003070.5(SMARCA2):c.1422G>A (p.Gln474=) rs144434753 0.00087
NM_003070.5(SMARCA2):c.4717G>A (p.Asp1573Asn) rs61736899 0.00083
NM_003070.5(SMARCA2):c.695A>C (p.Gln232Pro) rs143245740 0.00083
NM_003070.5(SMARCA2):c.1962G>A (p.Gln654=) rs151212782 0.00058
NM_003070.5(SMARCA2):c.1983C>A (p.Leu661=) rs140384223 0.00053
NM_003070.5(SMARCA2):c.708A>G (p.Gln236=) rs754442970 0.00050
NM_003070.5(SMARCA2):c.689A>C (p.Gln230Pro) rs145635937 0.00034
NM_003070.5(SMARCA2):c.3126-17C>T rs200229990 0.00029
NM_003070.5(SMARCA2):c.97C>T (p.Pro33Ser) rs146990134 0.00024
NM_003070.5(SMARCA2):c.2929C>T (p.Leu977=) rs139445919 0.00020
NM_003070.5(SMARCA2):c.3510G>T (p.Arg1170=) rs148467601 0.00019
NM_003070.5(SMARCA2):c.4207G>A (p.Val1403Met) rs143797398 0.00019
NM_003070.5(SMARCA2):c.4516A>T (p.Ile1506Phe) rs147135956 0.00018
NM_003070.5(SMARCA2):c.4200-4G>A rs190182277 0.00016
NM_003070.5(SMARCA2):c.175A>T (p.Thr59Ser) rs138129490 0.00008
NM_003070.5(SMARCA2):c.915C>G (p.Pro305=) rs981565985 0.00008
NM_003070.5(SMARCA2):c.1854C>T (p.Asp618=) rs140464170 0.00007
NM_003070.5(SMARCA2):c.482C>T (p.Pro161Leu) rs149394378 0.00005
NM_003070.5(SMARCA2):c.1890C>T (p.Ala630=) rs144414155 0.00003
NM_003070.5(SMARCA2):c.4257A>C (p.Ser1419=) rs547998868 0.00003
NM_003070.5(SMARCA2):c.1510C>A (p.Arg504=) rs576817778 0.00002
NM_003070.5(SMARCA2):c.210G>A (p.Met70Ile) rs529054959 0.00002
NM_003070.5(SMARCA2):c.2348+3A>G rs368599978 0.00002
NM_003070.5(SMARCA2):c.2349-15T>A rs777370075 0.00002
NM_003070.5(SMARCA2):c.2931G>A (p.Leu977=) rs758491724 0.00002
NM_003070.5(SMARCA2):c.4764T>A (p.Asp1588Glu) rs372976069 0.00002
NM_003070.5(SMARCA2):c.1064C>G (p.Ala355Gly) rs1245060732 0.00001
NM_003070.5(SMARCA2):c.3191C>T (p.Ala1064Val) rs747313863 0.00001
NM_003070.5(SMARCA2):c.3229T>A (p.Ser1077Thr) rs1388950613 0.00001
NM_003070.5(SMARCA2):c.4164C>T (p.Asn1388=) rs759832527 0.00001
NM_003070.5(SMARCA2):c.1941G>T (p.Glu647Asp)
NM_003070.5(SMARCA2):c.2348C>T (p.Ser783Leu) rs1554623112
NM_003070.5(SMARCA2):c.2361C>A (p.Asn787Lys) rs1343138502
NM_003070.5(SMARCA2):c.3314G>C (p.Arg1105Pro) rs281875197
NM_003070.5(SMARCA2):c.3314G>T (p.Arg1105Leu) rs281875197
NM_003070.5(SMARCA2):c.3344C>T (p.Pro1115Leu)
NM_003070.5(SMARCA2):c.3439G>A (p.Asp1147Asn) rs886041299
NM_003070.5(SMARCA2):c.3484C>T (p.Arg1162Cys) rs1057518414
NM_003070.5(SMARCA2):c.3485G>A (p.Arg1162His) rs281875186
NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val) rs281875189
NM_003070.5(SMARCA2):c.4029T>G (p.Leu1343=) rs150227062
NM_003070.5(SMARCA2):c.4377T>C (p.His1459=)
NM_003070.5(SMARCA2):c.4575AGA[1] (p.Glu1527del)
NM_003070.5(SMARCA2):c.483G>T (p.Pro161=) rs146359524
NM_003070.5(SMARCA2):c.669GCA[10] (p.Gln236_Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669GCA[11] (p.Gln237_Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669GCA[14] (p.Gln238_Pro239insGln) rs113070757
NM_003070.5(SMARCA2):c.669GCA[15] (p.Gln238_Pro239insGlnGln) rs113070757
NM_003070.5(SMARCA2):c.669GCA[16] (p.Gln238_Pro239insGlnGlnGln) rs113070757
NM_003070.5(SMARCA2):c.669GCA[6] (p.Gln232_Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669GCA[7] (p.Gln233_Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669GCA[8] (p.Gln234_Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669GCA[9] (p.Gln235_Gln238del) rs113070757
NM_003070.5(SMARCA2):c.685_686insCGC (p.Gln228_Gln229insPro) rs751906633
Single allele

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