ClinVar Miner

Variants in gene MCPH1 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
833 67 0 41 27 0 4 67

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 4 1 0 0
likely pathogenic 4 0 3 0 0
uncertain significance 1 3 0 21 9
likely benign 0 0 21 0 37
benign 0 0 9 37 0

All variants with conflicting interpretations #

Total variants: 67
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly) rs2515569 0.99154
NM_024596.5(MCPH1):c.228G>T (p.Val76=) rs2305022 0.69651
NM_024596.5(MCPH1):c.940G>C (p.Asp314His) rs930557 0.67053
NM_024596.5(MCPH1):c.2215-19A>G rs2936531 0.45478
NM_024596.5(MCPH1):c.23-26G>A rs1550697 0.33312
NM_024596.5(MCPH1):c.1936-43T>G rs41311412 0.06799
NM_024596.5(MCPH1):c.1728C>T (p.Gly576=) rs41313954 0.02943
NM_024596.5(MCPH1):c.634G>A (p.Ala212Thr) rs2922828 0.01586
NM_024596.5(MCPH1):c.23-15A>G rs146351889 0.01440
NM_024596.5(MCPH1):c.1719C>T (p.Ser573=) rs35551093 0.01384
NM_024596.5(MCPH1):c.2453-14C>T rs17077744 0.00931
NM_024596.5(MCPH1):c.1738A>G (p.Ser580Gly) rs17076894 0.00834
NM_024596.5(MCPH1):c.1845A>C (p.Thr615=) rs186547090 0.00403
NM_024596.5(MCPH1):c.989A>G (p.Tyr330Cys) rs115088000 0.00334
NM_024596.5(MCPH1):c.477A>T (p.Ser159=) rs41313948 0.00328
NM_024596.5(MCPH1):c.1781C>T (p.Thr594Met) rs115033462 0.00319
NM_024596.5(MCPH1):c.1495G>A (p.Val499Met) rs146586991 0.00302
NM_024596.5(MCPH1):c.2401A>G (p.Ser801Gly) rs45540031 0.00217
NM_024596.5(MCPH1):c.182A>G (p.Asp61Gly) rs61749465 0.00191
NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr) rs77959215 0.00160
NM_024596.5(MCPH1):c.2250G>T (p.Pro750=) rs370202384 0.00146
NM_024596.5(MCPH1):c.1716C>T (p.Asn572=) rs141218500 0.00134
NM_024596.5(MCPH1):c.1236T>C (p.Tyr412=) rs142858644 0.00120
NM_024596.5(MCPH1):c.647T>C (p.Ile216Thr) rs75741316 0.00082
NM_024596.5(MCPH1):c.1193C>T (p.Ala398Val) rs202241113 0.00080
NM_024596.5(MCPH1):c.1818C>T (p.Tyr606=) rs377400638 0.00079
NM_024596.5(MCPH1):c.1273T>A (p.Tyr425Asn) rs201261159 0.00067
NM_024596.5(MCPH1):c.1480G>A (p.Ala494Thr) rs183880522 0.00060
NM_024596.5(MCPH1):c.783T>A (p.Asp261Glu) rs199700538 0.00046
NM_024596.5(MCPH1):c.664T>C (p.Cys222Arg) rs41313952 0.00037
NM_024596.5(MCPH1):c.1785T>C (p.Ser595=) rs146744659 0.00035
NM_024596.5(MCPH1):c.115-14C>T rs200346652 0.00028
NM_024596.5(MCPH1):c.489T>C (p.Thr163=) rs191104356 0.00026
NM_024596.5(MCPH1):c.1214T>C (p.Leu405Pro) rs556803400 0.00022
NM_024596.5(MCPH1):c.1752A>G (p.Pro584=) rs372450763 0.00021
NM_024596.5(MCPH1):c.2295G>A (p.Ser765=) rs200401940 0.00019
NM_024596.5(MCPH1):c.1443C>T (p.Ile481=) rs185736569 0.00017
NM_024596.5(MCPH1):c.2274C>T (p.Asp758=) rs186136373 0.00010
NM_024596.5(MCPH1):c.1458A>G (p.Lys486=) rs192003514 0.00009
NM_024596.5(MCPH1):c.2395C>T (p.Pro799Ser) rs369127299 0.00008
NM_024596.5(MCPH1):c.445G>A (p.Val149Ile) rs201403389 0.00006
NM_024596.5(MCPH1):c.671A>G (p.Asp224Gly) rs770989341 0.00006
NM_024596.5(MCPH1):c.1974-2A>G rs541042265 0.00005
NM_024596.5(MCPH1):c.1233A>G (p.Ser411=) rs201026769 0.00004
NM_024596.5(MCPH1):c.1869_1870del (p.Ser623_Cys624insTer) rs587783735 0.00004
NM_024596.5(MCPH1):c.2221C>T (p.Arg741Ter) rs374596700 0.00004
NM_024596.5(MCPH1):c.322-1G>C rs201721894 0.00004
NM_024596.5(MCPH1):c.1876G>A (p.Gly626Ser) rs189380942 0.00003
NM_024596.5(MCPH1):c.297C>T (p.His99=) rs727504012 0.00003
NM_024596.5(MCPH1):c.671-3C>T rs374793979 0.00002
NM_024596.5(MCPH1):c.1494C>T (p.Cys498=) rs199951156 0.00001
NM_024596.5(MCPH1):c.444T>G (p.Asp148Glu) rs200828507 0.00001
NM_024596.5(MCPH1):c.954T>C (p.Ala318=) rs770723949 0.00001
NM_024596.5(MCPH1):c.114+5G>A
NM_024596.5(MCPH1):c.1351G>A (p.Glu451Lys) rs202004426
NM_024596.5(MCPH1):c.1403C>A (p.Thr468Asn) rs548329168
NM_024596.5(MCPH1):c.1441A>T (p.Ile481Phe) rs768776312
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter) rs572671721
NM_024596.5(MCPH1):c.1616A>G (p.Asp539Gly) rs587783734
NM_024596.5(MCPH1):c.1781C>G (p.Thr594Arg) rs115033462
NM_024596.5(MCPH1):c.216G>A (p.Ser72=) rs775942126
NM_024596.5(MCPH1):c.2256C>T (p.Arg752=) rs35999761
NM_024596.5(MCPH1):c.2453-1G>C rs587783739
NM_024596.5(MCPH1):c.321del (p.Lys107fs) rs759663956
NM_024596.5(MCPH1):c.433C>T (p.Leu145=) rs139607465
NM_024596.5(MCPH1):c.90A>G (p.Thr30=) rs139678787
NM_024596.5(MCPH1):c.9C>T (p.Ala3=)

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