Classification
Category 1
CMH MAF
1 /
14969 samples
(0.00668%)
1 het.,
0 hom.
(100%)
1 /
29938 total alleles
(0.00334%)
Genes
gene: TRNAN-GUU
synonym(s): TRNAN-GUU
TRNAN-GUU
[intron]
Reportable
gene: ACADM
synonym(s): ACAD1, MCAD, MCADH, ACADM, ENSG00000117054
NM_000016.4
[CDS]
Reportable
hgvs_c: NM_000016.4:c.1045C>T
reference AA: R
variant AA: *
reference codon: Cga
variant codon: Tga
cDNA pos: 1475
CDS pos: 1045
translation impact: premature_stop
protein sequence:
NP_000007.1
AA pos: 349
hgvs_p: NP_000007.1:p.Arg349Ter
blosum: -4
NM_001127328.1
[CDS]
hgvs_c: NM_001127328.1:c.1057C>T
reference AA: R
variant AA: *
reference codon: Cga
variant codon: Tga
cDNA pos: 1487
CDS pos: 1057
translation impact: premature_stop
protein sequence:
NP_001120800.1
AA pos: 353
hgvs_p: NP_001120800.1:p.Arg353Ter
blosum: -4
dbSNP
rs148207467
GMAF = 0.0001997
TOPMED_MAF = 0.00000796381243628
ClinVar
189016
clinvar_significance = Pathogenic_Likely_pathogenic
clinvar_disease = Medium-chain acyl-coenzyme A dehydrogenase deficiency
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000000,0.000227,0.000077
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
1 / 10404 |
0.00961% |
| America/Latino |
0 / 11578 |
0% |
| East Asian |
0 / 8654 |
0% |
| Finnish |
0 / 6614 |
0% |
| Non-Finnish |
0 / 66740 |
0% |
| Other |
0 / 908 |
0% |
| South Asian |
1 / 16510 |
0.00606% |
| Total MAF |
2 / 121408 |
0.00165% |
COSMIC
COSMIC Mutation ID = COSV63720301
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
1 / 24970 |
0.004% |
| America/Latino |
0 / 35438 |
0% |
| Ashkenazi Jewish |
0 / 10366 |
0% |
| East Asian |
0 / 19952 |
0% |
| Finnish |
0 / 25122 |
0% |
| Non-Finnish |
0 / 129106 |
0% |
| Other |
0 / 7222 |
0% |
| South Asian |
1 / 30616 |
0.00327% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14424 |
0% |
| Bulgarian |
0 / 2670 |
0% |
| Estonian |
0 / 4830 |
0% |
| North-Western European |
0 / 50760 |
0% |
| Southern European |
0 / 11602 |
0% |
| Swedish |
0 / 26132 |
0% |
| Other non-Finnish European |
0 / 33112 |
0% |
| Total MAF |
2 / 282792 |
0.000707% |
Export Variant