Variants with conflicting interpretations studied for Abetalipoproteinaemia

Minimum review status of the submission for Abetalipoproteinaemia:		Collection method of the submission for Abetalipoproteinaemia:
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)
		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
192	39	0	7	8	0	2	16

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
Abetalipoproteinaemia		likely pathogenic	uncertain significance	likely benign	benign
	likely pathogenic	0	2	0	0
	uncertain significance	2	0	6	3
	likely benign	0	6	0	7
	benign	0	3	7	0

Condition to condition summary #

Total conditions: 1

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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
Abetalipoproteinaemia	192	39	0	7	8	0	2	16

All variants with conflicting interpretations #

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly)	rs141736123	0.01357
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile)	rs61750974	0.00763
NM_001386140.1(MTTP):c.2043G>A (p.Glu681=)	rs145444300	0.00389
NM_001386140.1(MTTP):c.-6G>A	rs41275707	0.00276
NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser)	rs61733140	0.00170
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe)	rs144590904	0.00141
NM_001386140.1(MTTP):c.2025C>T (p.Ile675=)	rs79023226	0.00123
NM_001386140.1(MTTP):c.972G>A (p.Glu324=)	rs146953015	0.00111
NM_000253.3(MTTP):c.-214G>A	rs569667113	0.00066
NM_001386140.1(MTTP):c.111G>A (p.Thr37=)	rs147921439	0.00028
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu)	rs144600401	0.00028
NM_001386140.1(MTTP):c.915G>A (p.Ser305=)	rs199716549	0.00006
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys)	rs372321643	0.00004
NM_001386140.1(MTTP):c.2320T>G (p.Ser774Ala)	rs148362467	0.00003
NM_000253.4(MTTP):c.-149C>A	rs886058955
NM_001386140.1(MTTP):c.490A>G (p.Thr164Ala)	rs563558722

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