ClinVar Miner

Variants in gene BCS1L with conflicting interpretations

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
160 14 1 10 3 0 8 18

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
pathogenic 0 5 4 0 0
likely pathogenic 5 1 6 0 0
uncertain significance 4 6 0 3 0
likely benign 0 0 3 0 5
benign 0 0 0 5 0

All variants with conflicting interpretations #

Total variants: 18
Download table as spreadsheet
NM_001079866.2(BCS1L):c.-49-539T>A rs386833855
NM_001079866.2(BCS1L):c.-50+405A>G rs898301590
NM_001079866.2(BCS1L):c.126A>G (p.Ala42=) rs144200704
NM_001079866.2(BCS1L):c.201C>T (p.Leu67=) rs142540289
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys) rs377025174
NM_001079866.2(BCS1L):c.269G>A (p.Arg90His) rs747956412
NM_001079866.2(BCS1L):c.320+1G>T rs386833856
NM_001079866.2(BCS1L):c.349C>A (p.Arg117=) rs777735526
NM_001079866.2(BCS1L):c.399del (p.Glu133fs) rs751484879
NM_001079866.2(BCS1L):c.461-9C>T rs780651750
NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys) rs144885874
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys) rs121908578
NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter) rs776838028
NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile) rs148278887
NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn) rs58447305
NM_001079866.2(BCS1L):c.775T>A (p.Ser259Thr) rs77729067
NM_001079866.2(BCS1L):c.822G>A (p.Pro274=) rs112329020
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter) rs201454788

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. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.