ClinVar Miner

Variants in gene BICD2 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
757 20 1 14 8 0 7 27

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 3 5 0 0
likely pathogenic 3 0 3 1 0
uncertain significance 5 3 0 6 2
likely benign 0 1 6 1 11
benign 0 0 2 11 0

All variants with conflicting interpretations #

Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001003800.2(BICD2):c.2258+15G>C rs140501870 0.00450
NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg) rs61754130 0.00437
NM_001003800.2(BICD2):c.2445G>A (p.Pro815=) rs34451610 0.00337
NM_001003800.2(BICD2):c.454-19T>C rs114997314 0.00256
NM_001003800.2(BICD2):c.1806G>A (p.Thr602=) rs138300993 0.00118
NM_001003800.2(BICD2):c.1387C>T (p.Arg463Cys) rs78319441 0.00113
NM_001003800.2(BICD2):c.1179T>A (p.Asn393Lys) rs144427583 0.00066
NM_001003800.2(BICD2):c.2397C>T (p.Leu799=) rs151133287 0.00061
NM_001003800.2(BICD2):c.1050G>A (p.Gln350=) rs368860496 0.00044
NM_001003800.2(BICD2):c.1893C>T (p.Ile631=) rs141414055 0.00040
NM_001003800.2(BICD2):c.484C>T (p.Arg162Cys) rs766087023 0.00011
NM_001003800.2(BICD2):c.2350A>G (p.Met784Val) rs149891938 0.00008
NM_001003800.2(BICD2):c.1696C>T (p.Arg566Cys) rs748022488 0.00004
NM_001003800.2(BICD2):c.1725C>G (p.Pro575=) rs201343832 0.00003
NM_001003800.2(BICD2):c.638A>G (p.Lys213Arg) rs755962512 0.00003
NM_001003800.2(BICD2):c.1477C>T (p.Arg493Cys) rs146113445 0.00002
NM_001003800.2(BICD2):c.1376C>T (p.Thr459Met) rs777065935 0.00001
NM_001003800.2(BICD2):c.1864C>T (p.Arg622Trp) rs1445290655 0.00001
NM_001003800.2(BICD2):c.2108C>T (p.Thr703Met) rs371707778 0.00001
NM_001003800.2(BICD2):c.2258+6C>T rs566572599 0.00001
NM_001003800.2(BICD2):c.1502G>C (p.Arg501Pro) rs398123032
NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu) rs587777885
NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys) rs797045412
NM_001003800.2(BICD2):c.2239C>T (p.Arg747Cys) rs1587667544
NM_001003800.2(BICD2):c.2321A>G (p.Glu774Gly) rs398123030
NM_001003800.2(BICD2):c.563A>C (p.Asn188Thr) rs398123029
NM_001003800.2(BICD2):c.565A>T (p.Ile189Phe) rs1587671674

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