Variants Meeting Frequency Criteria for BA1 and BS1 but Queued for Deeper Curation

(currently not classified or classified as VUS)

BA1 frequency (>= 1%), total: 90 (VUS: 90); BS1 frequency (0.5 - <1%), total: 109 (VUS: 109)

Report date: 2025-03-21 For high frequency Benign and Likely Benign variants, see Benign.

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Index	Position	Variant	Locus	Mitomap GB Freq (%)	gnomAD v3.1 Freq (%)	Helix Freq (%)	Tools	Calc ClinGen Pathogenicity	Mitomap Pathogenicity
VUS.BA1.001	72	m.72T>C	7SDNA, ATT, CR, HV2	1.822	2.502	3.233	NR	Benign	Reported
VUS.BA1.002	114	m.114C>T	7SDNA, ATT, CR, HV2, OHR	0.428	0.692	1.007	NR	Benign	Reported
VUS.BA1.003	146	m.146T>C	7SDNA, ATT, CR, HV2, OHR	18.904	20.369	13.024	NR	Benign	Reported
VUS.BA1.004	150	m.150C>T	7SDNA, ATT, CR, HV2, OHR	13.013	16.628	10.078	NR	Benign	Conflictingreports
VUS.BA1.005	195	m.195T>C	ATT, CR, HV2, OHR	18.883	27.606	17.602	NR	Benign	Reported
VUS.BA1.006	309	m.309dup	ATT, CR, HV2, OHR, CSB2	1.129	0.058	NR	NR	Benign	Reported
VUS.BA1.007	310	m.310T>C	ATT, CR, HV2, OHR, CSB2	39.981	5.297	NR	NR	Benign	Reported
VUS.BA1.008	315	m.315dup	ATT, CR, HV2, OHR, CSB2	30.325	62.551	NR	NR	Benign	Reported
VUS.BA1.009	499	m.499G>A	ATT, CR, HV3	3.768	4.510	4.098	NR	Benign	Reported
VUS.BA1.010	573	m.572_573dup	CR, HV3	1.079	0.004	0.066	NR	Benign	Reported
VUS.BA1.011	663	m.663A>G	RNR1	2.862	4.752	3.171	NR	Benign	Reported
VUS.BA1.012	827	m.827A>G	RNR1	2.582	2.321	1.909	NR	Benign	Conflictingreports
VUS.BA1.013	921	m.921T>C	RNR1	0.702	1.747	0.284	NR	Benign	Reported
VUS.BA1.014	2352	m.2352T>C	RNR2	2.631	7.515	1.349	NR	Benign	Reported
VUS.BA1.015	3010	m.3010G>A	RNR2, SHLP6	15.263	16.341	20.927	NR	Benign	Reported
VUS.BA1.016	3308	m.3308T>C	ND1	0.690	2.852	0.575	Apogee: 0.328	Benign	Reported-possiblysynergistic;hgL1bandA2imarker
VUS.BA1.017	3394	m.3394T>C	ND1	1.329	0.911	1.085	Apogee: 0.582	Benign	Reported[VUS]-populationdependent;hgM9marker
VUS.BA1.018	3396	m.3396T>C	ND1	0.768	1.508	0.402	NR	Benign	Reported/Unclear
VUS.BA1.019	3552	m.3552T>A	ND1	3.485	1.538	1.566	NR	Benign	Reported;hgCmarker
VUS.BA1.020	3796	m.3796A>G	ND1	0.471	0.826	1.010	Apogee: 0.069	Benign	Reported
VUS.BA1.021	4216	m.4216T>C	ND1	10.386	11.756	17.053	Apogee: 0.193	Benign	Conflictingreports
VUS.BA1.022	4336	m.4336T>C	tRNA.Q	0.876	1.306	2.015	MitoTIP: 37.30% Hmtvar: 0.4	Benign	Reported[B]
VUS.BA1.023	4491	m.4491G>A	ND2	1.602	0.298	0.384	Apogee: 0.011	Benign	Reported
VUS.BA1.024	4580	m.4580G>A	ND2	1.717	2.425	2.681	NR	Benign	Reported
VUS.BA1.025	4833	m.4833A>G	ND2	1.028	0.152	0.158	Apogee: 0.049	Benign	Reported
VUS.BA1.026	4883	m.4883C>T	ND2	4.531	1.090	1.171	NR	Benign	Conflictingreports
VUS.BA1.027	4917	m.4917A>G	ND2	5.022	5.754	8.981	Apogee: 0.232	Benign	Reported
VUS.BA1.028	5178	m.5178C>A	ND2	4.500	1.069	1.146	Apogee: 0.031	Benign	Reported
VUS.BA1.029	5460	m.5460G>A	ND2	6.685	5.398	4.982	Apogee: 0.053	Benign	Conflictingreports
VUS.BA1.030	5601	m.5601C>T	tRNA.A	0.964	1.388	0.284	MitoTIP: 4.20% Hmtvar: 0.1	Benign	Reported
VUS.BA1.031	5655	m.5655T>C	tRNA.A	0.640	2.424	0.466	MitoTIP: 26.70% Hmtvar: 0.45	Benign	Reported
VUS.BA1.032	5814	m.5814T>C	tRNA.C	0.361	1.377	0.255	MitoTIP: 38.80% Hmtvar: 0.75	Benign	Reported[LB]
VUS.BA1.033	6150	m.6150G>A	CO1	0.407	1.003	0.197	Apogee: 0.066	Benign	Reported
VUS.BA1.034	6253	m.6253T>C	CO1	0.960	1.163	0.509	Apogee: 0.053	Benign	Reported
VUS.BA1.035	6663	m.6663A>G	CO1	0.320	1.067	0.188	Apogee: 0.044	Benign	Reported
VUS.BA1.036	6962	m.6962G>A	CO1	2.463	0.406	0.409	NR	Benign	Reported
VUS.BA1.037	7598	m.7598G>A	CO2	1.051	0.223	0.328	Apogee: 0.017	Benign	Reported
VUS.BA1.038	8414	m.8414C>T	ATP8	3.745	0.898	1.008	Apogee: 0.062	Benign	Reported
VUS.BA1.039	8527	m.8527A>G	ATP8, ATP6	0.396	1.304	0.202	NR	Benign	Reported
VUS.BA1.040	8794	m.8794C>T	ATP6	2.852	4.750	3.120	Apogee: 0.015	Benign	Reported
VUS.BA1.041	8932	m.8932C>T	ATP6	0.396	1.327	0.195	Apogee: 0.143	Benign	Reported[B]
VUS.BA1.042	9055	m.9055G>A	ATP6	4.160	5.393	8.050	Apogee: 0.075	Benign	Reported
VUS.BA1.043	9438	m.9438G>A	CO3	1.258	0.340	0.301	Apogee: 0.438	Benign	Conflictingreports
VUS.BA1.044	10086	m.10086A>G	ND3	0.754	2.121	0.292	Apogee: 0.279	Benign	Reported
VUS.BA1.045	10142	m.10142C>T	ND3	1.135	0.326	0.253	NR	Benign	Reported
VUS.BA1.046	10398	m.10398A>G	ND3	42.662	41.848	25.166	Apogee: 0.040	Benign	Reported;lineageL&Mmarker,alsohgIJK
VUS.BA1.047	10609	m.10609T>C	ND4L	2.434	0.369	0.424	Apogee: 0.016	Benign	Reported
VUS.BA1.048	11251	m.11251A>G	ND4	9.744	11.009	16.723	NR	Benign	Reported
VUS.BA1.049	11467	m.11467A>G	ND4	12.823	15.558	20.018	NR	Benign	Reported[B]
VUS.BA1.050	11914	m.11914G>A	ND4	10.480	10.858	5.329	NR	Benign	Reported

Showing 1 to 50 of 199 entries

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