Classification
Category 1
CMH MAF
28 /
13144 samples
(0.213%)
28 het.,
0 hom.
(100%)
28 /
26288 total alleles
(0.107%)
Genes
gene: ACSF3
synonym(s): ACSF3, ENSG00000176715
NM_001127214.2
[CDS]
hgvs_c: NM_001127214.2:c.1075G>A
reference AA: E
variant AA: K
reference codon: Gag
variant codon: Aag
cDNA pos: 1283
CDS pos: 1075
translation impact: non_synonymous
protein sequence:
NP_001120686.1
AA pos: 359
hgvs_p: NP_001120686.1:p.Glu359Lys
blosum: 1
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.992)
NM_001243279.1
[CDS]
hgvs_c: NM_001243279.1:c.1075G>A
reference AA: E
variant AA: K
reference codon: Gag
variant codon: Aag
cDNA pos: 1456
CDS pos: 1075
translation impact: non_synonymous
protein sequence:
NP_001230208.1
AA pos: 359
hgvs_p: NP_001230208.1:p.Glu359Lys
blosum: 1
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.992)
NM_174917.3
[CDS]
Reportable
hgvs_c: NM_174917.3:c.1075G>A
reference AA: E
variant AA: K
reference codon: Gag
variant codon: Aag
cDNA pos: 1452
CDS pos: 1075
translation impact: non_synonymous
protein sequence:
NP_777577.2
AA pos: 359
hgvs_p: NP_777577.2:p.Glu359Lys
blosum: 1
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.992)
NR_023316.2
[exon]
hgvs_c: NR_023316.2:n.593G>A
cDNA pos: 593
NR_045666.1
[exon]
hgvs_c: NR_045666.1:n.1452G>A
cDNA pos: 1452
dbSNP
rs150487794
GMAF = 0.0007987
TOPMED_MAF = 0.00083620030581039
ClinVar
31136
clinvar_significance = Conflicting_interpretations_of_pathogenicity
clinvar_disease = Combined malonic and methylmalonic aciduria
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.001279,0.000000,0.000846
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
1 / 10376 |
0.00964% |
| America/Latino |
14 / 11566 |
0.121% |
| East Asian |
0 / 8642 |
0% |
| Finnish |
2 / 6608 |
0.0303% |
| Non-Finnish |
64 / 66524 |
0.0962% |
| Other |
0 / 902 |
0% |
| South Asian |
2 / 16512 |
0.0121% |
| Total MAF |
83 / 121130 |
0.0685% |
COSMIC
COSMIC Mutation ID = COSV58082354
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
10 / 24950 |
0.0401% |
| America/Latino |
28 / 35434 |
0.079% |
| Ashkenazi Jewish |
1 / 10360 |
0.00965% |
| East Asian |
0 / 19948 |
0% |
| Finnish |
1 / 24588 |
0.00407% |
| Non-Finnish |
136 / 129020 |
0.105% |
| Other |
9 / 7210 |
0.125% |
| South Asian |
3 / 30616 |
0.0098% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14418 |
0% |
| Bulgarian |
0 / 2668 |
0% |
| Estonian |
1 / 4822 |
0.0207% |
| North-Western European |
76 / 50758 |
0.15% |
| Southern European |
10 / 11606 |
0.0862% |
| Swedish |
21 / 26124 |
0.0804% |
| Other non-Finnish European |
28 / 33042 |
0.0847% |
| Total MAF |
188 / 282126 |
0.0666% |
Export Variant