ClinVar Miner

Variants with conflicting interpretations studied for ARID1A-related condition

Minimum review status of the submission for ARID1A-related condition: Collection method of the submission for ARID1A-related condition:
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
42 21 0 32 10 0 0 38

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
ARID1A-related condition uncertain significance likely benign benign
uncertain significance 0 3 0
likely benign 5 0 29
benign 2 3 0

Condition to condition summary #

Total conditions: 2
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 21 0 32 7 0 0 37
not specified 0 6 0 4 5 0 0 9

All variants with conflicting interpretations #

Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_006015.6(ARID1A):c.358C>T (p.Pro120Ser) rs571264557 0.00572
NM_006015.6(ARID1A):c.5779G>C (p.Ala1927Pro) rs143257313 0.00131
NM_006015.6(ARID1A):c.5336A>G (p.Glu1779Gly) rs140946580 0.00112
NM_006015.6(ARID1A):c.4869G>A (p.Ser1623=) rs148936933 0.00106
NM_006015.6(ARID1A):c.373G>A (p.Gly125Ser) rs536658556 0.00076
NM_006015.6(ARID1A):c.162C>T (p.Ala54=) rs1001634270 0.00068
NM_006015.6(ARID1A):c.3792C>T (p.Ala1264=) rs142429183 0.00061
NM_006015.6(ARID1A):c.3762C>T (p.Gly1254=) rs138814830 0.00060
NM_006015.6(ARID1A):c.1716G>A (p.Thr572=) rs147554664 0.00055
NM_006015.6(ARID1A):c.5076C>T (p.Asn1692=) rs149468118 0.00038
NM_006015.6(ARID1A):c.2298G>A (p.Gln766=) rs572510196 0.00031
NM_006015.6(ARID1A):c.3408G>A (p.Ala1136=) rs146598030 0.00029
NM_006015.6(ARID1A):c.1597C>T (p.Pro533Ser) rs200572766 0.00022
NM_006015.6(ARID1A):c.405T>G (p.Pro135=) rs922780561 0.00013
NM_006015.6(ARID1A):c.4542G>A (p.Thr1514=) rs560211386 0.00010
NM_006015.6(ARID1A):c.3046G>A (p.Gly1016Ser) rs182858322 0.00007
NM_006015.6(ARID1A):c.5615C>T (p.Ala1872Val) rs191813608 0.00007
NM_006015.6(ARID1A):c.1029_1043del (p.Ala345_Ala349del) rs751352361
NM_006015.6(ARID1A):c.148A>G (p.Met50Val)
NM_006015.6(ARID1A):c.1791C>T (p.Phe597=)
NM_006015.6(ARID1A):c.1883T>C (p.Met628Thr)
NM_006015.6(ARID1A):c.2109C>A (p.Pro703=)
NM_006015.6(ARID1A):c.2328T>C (p.Pro776=)
NM_006015.6(ARID1A):c.2419+10_2419+21del
NM_006015.6(ARID1A):c.249CGG[6] (p.Gly86_Gly87dup) rs1015322780
NM_006015.6(ARID1A):c.250_267del (p.Gly84_Gly89del) rs777773061
NM_006015.6(ARID1A):c.264C>T (p.Ala88=) rs765913797
NM_006015.6(ARID1A):c.3242A>G (p.Asn1081Ser)
NM_006015.6(ARID1A):c.36C>T (p.Ser12=)
NM_006015.6(ARID1A):c.456A>G (p.Gln152=) rs1043397333
NM_006015.6(ARID1A):c.483CGC[5] (p.Ala167dup) rs759913677
NM_006015.6(ARID1A):c.48GCC[4] (p.Pro21del) rs748085214
NM_006015.6(ARID1A):c.48GCC[7] (p.Pro20_Pro21dup) rs748085214
NM_006015.6(ARID1A):c.501C>T (p.Ala167=)
NM_006015.6(ARID1A):c.5717G>A (p.Arg1906Gln) rs41303631
NM_006015.6(ARID1A):c.6612C>T (p.Ala2204=)
NM_006015.6(ARID1A):c.6652A>T (p.Met2218Leu)
NM_006015.6(ARID1A):c.729GGC[4] (p.Ala247dup) rs749970078

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