Variants with conflicting interpretations studied for Autosomal recessive limb-girdle muscular dystrophy type 2D

Minimum review status of the submission for Autosomal recessive limb-girdle muscular dystrophy type 2D:		Collection method of the submission for Autosomal recessive limb-girdle muscular dystrophy type 2D:
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
537	125	0	55	24	0	22	95

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
Autosomal recessive limb-girdle muscular dystrophy type 2D		pathogenic	likely pathogenic	uncertain significance	likely benign	benign
	pathogenic	0	52	8	0	0
	likely pathogenic	52	0	18	1	0
	uncertain significance	8	18	0	23	2
	likely benign	0	1	23	0	3
	benign	0	0	2	3	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
Autosomal recessive limb-girdle muscular dystrophy type 2D	537	125	0	55	24	0	22	95

All variants with conflicting interpretations #

Total variants: 95

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HGVS	dbSNP	gnomAD frequency
NM_000023.4(SGCA):c.366G>A (p.Leu122=)	rs147739328	0.00075
NM_000023.4(SGCA):c.843C>A (p.Ala281=)	rs149487996	0.00075
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser)	rs35130237	0.00058
NM_000023.4(SGCA):c.662G>A (p.Arg221His)	rs138254713	0.00042
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg)	rs201131924	0.00023
NM_000023.4(SGCA):c.739G>A (p.Val247Met)	rs143570936	0.00019
NM_000023.4(SGCA):c.80C>T (p.Thr27Met)	rs565069721	0.00018
NM_000023.4(SGCA):c.37+10G>T	rs200626376	0.00017
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys)	rs138945081	0.00013
NM_000023.4(SGCA):c.328C>T (p.Arg110Trp)	rs200137051	0.00013
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)	rs137852623	0.00013
NM_000023.4(SGCA):c.981C>T (p.Ser327=)	rs368522117	0.00013
NM_000023.4(SGCA):c.320C>T (p.Ala107Val)	rs186669379	0.00010
NM_000023.4(SGCA):c.764C>T (p.Pro255Leu)	rs138019537	0.00009
NM_000023.4(SGCA):c.62C>T (p.Thr21Ile)	rs199804735	0.00006
NM_000023.4(SGCA):c.614C>A (p.Pro205His)	rs757481230	0.00005
NM_000023.4(SGCA):c.657C>T (p.His219=)	rs747684069	0.00005
NM_000023.4(SGCA):c.1053C>T (p.Arg351=)	rs148373921	0.00004
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys)	rs748936034	0.00004
NM_000023.4(SGCA):c.90A>G (p.Pro30=)	rs754840688	0.00004
NM_000023.4(SGCA):c.221G>A (p.Arg74Gln)	rs779439298	0.00003
NM_000023.4(SGCA):c.293G>A (p.Arg98His)	rs137852621	0.00003
NM_000023.4(SGCA):c.34G>A (p.Val12Met)	rs766209304	0.00003
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr)	rs768814872	0.00003
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro)	rs143962150	0.00003
NM_000023.4(SGCA):c.522C>T (p.Asn174=)	rs148960833	0.00003
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)	rs758647756	0.00002
NM_000023.4(SGCA):c.242G>A (p.Arg81His)	rs747984529	0.00002
NM_000023.4(SGCA):c.157G>A (p.Ala53Thr)	rs60407644	0.00001
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr)	rs759692350	0.00001
NM_000023.4(SGCA):c.197T>A (p.Leu66His)	rs767928766	0.00001
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp)	rs757888349	0.00001
NM_000023.4(SGCA):c.289G>C (p.Asp97His)	rs774299871	0.00001
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr)	rs1161291343	0.00001
NM_000023.4(SGCA):c.313-2A>G	rs1057516650	0.00001
NM_000023.4(SGCA):c.354G>A (p.Gln118=)	rs772233387	0.00001
NM_000023.4(SGCA):c.37+6T>C	rs751466815	0.00001
NM_000023.4(SGCA):c.393G>A (p.Leu131=)	rs758472374	0.00001
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)	rs372210292	0.00001
NM_000023.4(SGCA):c.489del (p.Leu164fs)	rs753650776	0.00001
NM_000023.4(SGCA):c.502G>A (p.Gly168Arg)	rs199810179	0.00001
NM_000023.4(SGCA):c.585-1G>A	rs1342189589	0.00001
NM_000023.4(SGCA):c.591C>T (p.Tyr197=)	rs756137267	0.00001
NM_000023.4(SGCA):c.600G>A (p.Val200=)	rs764188161	0.00001
NM_000023.4(SGCA):c.700G>A (p.Asp234Asn)	rs760608643	0.00001
NM_000023.4(SGCA):c.851G>A (p.Arg284His)	rs369359375	0.00001
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)	rs903823830	0.00001
NM_000023.3(SGCA):c.586delG	rs1220674950
NM_000023.4(SGCA):c.1011C>A (p.Ile337=)	rs1209145667
NM_000023.4(SGCA):c.1025_1026del (p.Glu342fs)	rs2509133581
NM_000023.4(SGCA):c.1039_1042dup (p.Ala348fs)	rs1598277713
NM_000023.4(SGCA):c.1054G>T (p.Glu352Ter)	rs763372958
NM_000023.4(SGCA):c.129G>A (p.Glu43=)	rs2144493407
NM_000023.4(SGCA):c.132_135dup (p.Leu46fs)	rs2144493427
NM_000023.4(SGCA):c.186C>G (p.Tyr62Ter)	rs766400853
NM_000023.4(SGCA):c.1A>G (p.Met1Val)	rs2509113878
NM_000023.4(SGCA):c.203del (p.Gly68fs)	rs1567739228
NM_000023.4(SGCA):c.226C>T (p.Leu76Phe)	rs1555568335
NM_000023.4(SGCA):c.229dup (p.Arg77fs)	rs1342319346
NM_000023.4(SGCA):c.236_237insA (p.Gln80fs)	rs1567739339
NM_000023.4(SGCA):c.241C>T (p.Arg81Cys)	rs398123098
NM_000023.4(SGCA):c.246C>A (p.Ser82Arg)	rs1598265282
NM_000023.4(SGCA):c.271G>A (p.Gly91Ser)	rs890921874
NM_000023.4(SGCA):c.271G>T (p.Gly91Cys)	rs890921874
NM_000023.4(SGCA):c.279_284del (p.Thr94_Pro95del)	rs1555568383
NM_000023.4(SGCA):c.304G>T (p.Val102Phe)	rs1266940329
NM_000023.4(SGCA):c.313_319del (p.Val105Profs)
NM_000023.4(SGCA):c.317_318del (p.Thr106fs)	rs1567739735
NM_000023.4(SGCA):c.37+1G>T	rs111386656
NM_000023.4(SGCA):c.37+2C>G	rs112500642
NM_000023.4(SGCA):c.377dup (p.Asp126fs)	rs1905070544
NM_000023.4(SGCA):c.391del (p.Leu131fs)	rs144356125
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)	rs780264754
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter)	rs886043221
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)	rs372210292
NM_000023.4(SGCA):c.464del (p.Ser155fs)	rs1555568775
NM_000023.4(SGCA):c.480C>G (p.Ala160=)	rs2144496738
NM_000023.4(SGCA):c.488dup (p.Leu164fs)	rs763986788
NM_000023.4(SGCA):c.49G>A (p.Gly17Arg)	rs573792379
NM_000023.4(SGCA):c.559del (p.Leu187fs)	rs1057516888
NM_000023.4(SGCA):c.588A>G (p.Val196=)
NM_000023.4(SGCA):c.596del (p.Lys199fs)	rs2509123048
NM_000023.4(SGCA):c.614C>T (p.Pro205Leu)	rs757481230
NM_000023.4(SGCA):c.644C>T (p.Ser215Phe)	rs750844090
NM_000023.4(SGCA):c.675C>T (p.Gly225=)	rs773985328
NM_000023.4(SGCA):c.70C>T (p.Gln24Ter)	rs2144493135
NM_000023.4(SGCA):c.724G>T (p.Val242Phe)	rs200166783
NM_000023.4(SGCA):c.747+1G>A	rs886043392
NM_000023.4(SGCA):c.754_755del (p.Lys252fs)	rs1057517377
NM_000023.4(SGCA):c.801dup (p.Ile268fs)	rs1905256830
NM_000023.4(SGCA):c.850C>G (p.Arg284Gly)	rs137852623
NM_000023.4(SGCA):c.904del (p.Leu302fs)	rs2144501172
NM_000023.4(SGCA):c.929_930del (p.Tyr310fs)	rs1555569329
NM_000023.4(SGCA):c.957-1G>T	rs2144502043
NM_000023.4(SGCA):c.95T>C (p.Val32Ala)	rs1017592342

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