Variants with conflicting interpretations studied for CFTR-related disorder

Minimum review status of the submission for CFTR-related disorder:		Collection method of the submission for CFTR-related disorder:
Minimum review status of the other submission:		Collection method of the other submission:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)

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
1534	171	0	40	22	0	21	73

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
CFTR-related disorder		pathogenic	likely pathogenic	uncertain significance	likely benign	benign
	pathogenic	0	31	12	3	0
	likely pathogenic	31	0	13	2	0
	uncertain significance	12	13	0	22	3
	likely benign	3	2	22	0	9
	benign	0	0	3	9	0

Condition to condition summary #

Total conditions: 1

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
CFTR-related disorder	1534	171	0	40	22	0	21	73

All variants with conflicting interpretations #

Total variants: 73

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.1408G>A (p.Val470Met)	rs213950	0.56732
NM_000492.4(CFTR):c.2562T>G (p.Thr854=)	rs1042077	0.44737
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=)	rs1800136	0.23047
NM_000492.4(CFTR):c.-8G>C	rs1800501	0.04368
NM_000492.4(CFTR):c.1584G>A (p.Glu528=)	rs1800095	0.01670
NM_000492.4(CFTR):c.2898G>A (p.Thr966=)	rs1800109	0.00907
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=)	rs1800135	0.00634
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)	rs1800100	0.00625
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=)	rs1800118	0.00570
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)	rs1800098	0.00519
NM_000492.4(CFTR):c.1581A>G (p.Glu527=)	rs1800094	0.00450
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)	rs11971167	0.00417
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)	rs121909046	0.00335
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)	rs1800111	0.00208
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val)	rs75789129	0.00119
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=)	rs1800131	0.00101
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)	rs74571530	0.00093
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)	rs121909034	0.00068
NM_000492.4(CFTR):c.509G>A (p.Arg170His)	rs1800079	0.00045
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)	rs121908759	0.00039
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)	rs140455771	0.00038
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)	rs150212784	0.00037
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)	rs200321110	0.00035
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)	rs147422190	0.00034
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)	rs1800103	0.00034
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr)	rs141723617	0.00034
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)	rs75541969	0.00033
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)	rs78769542	0.00030
NM_000492.4(CFTR):c.221G>A (p.Arg74Gln)	rs142540482	0.00022
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys)	rs149279509	0.00019
NM_000492.4(CFTR):c.489+3A>G	rs377729736	0.00016
NM_000492.4(CFTR):c.360G>A (p.Ala120=)	rs1800077	0.00015
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)	rs397508137	0.00011
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val)	rs397508556	0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)	rs191456345	0.00011
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys)	rs199791061	0.00009
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu)	rs140502196	0.00009
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp)	rs4148725	0.00009
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp)	rs193922497	0.00008
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)	rs141482808	0.00007
NM_000492.4(CFTR):c.3429G>A (p.Leu1143=)	rs375845215	0.00006
NM_000492.4(CFTR):c.3908A>T (p.Asn1303Ile)	rs397508636	0.00006
NM_000492.4(CFTR):c.4296C>T (p.Asn1432=)	rs761669740	0.00006
NM_000492.4(CFTR):c.3874-4522A>G	rs895394181	0.00005
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)	rs193922501	0.00003
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys)	rs397508463	0.00003
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)	rs202179988	0.00003
NM_000492.4(CFTR):c.3024C>T (p.Val1008=)	rs774643457	0.00002
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)	rs144055758	0.00002
NM_000492.4(CFTR):c.1837G>A (p.Ala613Thr)	rs201978662	0.00001
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly)	rs201124247	0.00001
NM_000492.4(CFTR):c.234dup (p.Trp79fs)	rs1189377616	0.00001
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn)	rs369521395	0.00001
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly)	rs397508436	0.00001
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe)	rs141033578	0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile)	rs397508600	0.00001
NM_000492.4(CFTR):c.3759G>A (p.Leu1253=)	rs117400534	0.00001
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His)	rs121909015	0.00001
NM_000492.4(CFTR):c.4276T>C (p.Ser1426Pro)	rs397508708	0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val)	rs397508763	0.00001
NM_000492.4(CFTR):c.870-2A>G	rs1290078234	0.00001
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser)	rs1800086
NM_000492.4(CFTR):c.1265C>T (p.Ser422Phe)	rs201880593
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser)	rs79282516
NM_000492.4(CFTR):c.1569A>G (p.Ala523=)	rs2485065974
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)	rs1800076
NM_000492.4(CFTR):c.2907A>C (p.Ala969=)	rs377502207
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr)	rs113993958
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu)	rs1800120
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly)	rs77834169
NM_000492.4(CFTR):c.3717+5G>A	rs193922520
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)	rs113857788
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn)	rs397508725

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.