Classification
Category 1
CMH MAF
2 /
14969 samples
(0.0134%)
2 het.,
0 hom.
(100%)
2 /
29938 total alleles
(0.00668%)
Genes
gene: ACADVL
synonym(s): ACAD6, LCACD, VLCAD, ACADVL, ENSG00000072778
NM_000018.3
[CDS]
Reportable
hgvs_c: NM_000018.3:c.664G>A
reference AA: G
variant AA: R
reference codon: Ggg
variant codon: Agg
cDNA pos: 818
CDS pos: 664
translation impact: non_synonymous
protein sequence:
NP_000009.1
AA pos: 222
hgvs_p: NP_000009.1:p.Gly222Arg
blosum: -2
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (1.0)
NM_001033859.2
[CDS]
hgvs_c: NM_001033859.2:c.598G>A
reference AA: G
variant AA: R
reference codon: Ggg
variant codon: Agg
cDNA pos: 752
CDS pos: 598
translation impact: non_synonymous
protein sequence:
NP_001029031.1
AA pos: 200
hgvs_p: NP_001029031.1:p.Gly200Arg
blosum: -2
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (1.0)
NM_001270447.1
[CDS]
hgvs_c: NM_001270447.1:c.733G>A
reference AA: G
variant AA: R
reference codon: Ggg
variant codon: Agg
cDNA pos: 754
CDS pos: 733
translation impact: non_synonymous
protein sequence:
NP_001257376.1
AA pos: 245
hgvs_p: NP_001257376.1:p.Gly245Arg
blosum: -2
SIFT: deleterious (0.02)
PolyPhen2: probably_damaging (1.0)
NM_001270448.1
[CDS]
hgvs_c: NM_001270448.1:c.436G>A
reference AA: G
variant AA: R
reference codon: Ggg
variant codon: Agg
cDNA pos: 893
CDS pos: 436
translation impact: non_synonymous
protein sequence:
NP_001257377.1
AA pos: 146
hgvs_p: NP_001257377.1:p.Gly146Arg
blosum: -2
dbSNP
rs398123091
TOPMED_MAF = 0.00000796381243628
ClinVar
92289
clinvar_significance = Likely_pathogenic
clinvar_disease = Very long chain acyl-CoA dehydrogenase deficiency
gnomAD
gnomAD
Source: Exome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 16252 |
0% |
| America/Latino |
0 / 34584 |
0% |
| Ashkenazi Jewish |
0 / 10076 |
0% |
| East Asian |
0 / 18390 |
0% |
| Finnish |
0 / 21644 |
0% |
| Non-Finnish |
1 / 113688 |
0.00088% |
| Other |
1 / 6136 |
0.0163% |
| South Asian |
1 / 30614 |
0.00327% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14420 |
0% |
| Bulgarian |
0 / 2670 |
0% |
| Estonian |
0 / 242 |
0% |
| North-Western European |
1 / 42196 |
0.00237% |
| Southern European |
0 / 11498 |
0% |
| Swedish |
0 / 26120 |
0% |
| Other non-Finnish European |
0 / 30962 |
0% |
| Total MAF |
3 / 251384 |
0.00119% |
Export Variant