17:7125312-7125312 G > A

Classification

Category 1

CMH MAF

2 / 14969 samples (0.0134%)
2 het., 0 hom. (100%)
2 / 29938 total alleles (0.00668%)

Genes

Consequences
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

Curation

Likely pathogenic