Classification
Category 4
curation
CMH MAF
61 /
14969 samples
(0.408%)
59 het.,
2 hom.
(96.7%)
63 /
29938 total alleles
(0.21%)
Genes
gene: PEX10
synonym(s): NALD, PBD6A, PBD6B, RNF69, PEX10, ENSG00000157911
NM_002617.3
[CDS]
hgvs_c: NM_002617.3:c.685G>C
reference AA: V
variant AA: L
reference codon: Gtg
variant codon: Ctg
cDNA pos: 754
CDS pos: 685
translation impact: non_synonymous
protein sequence:
NP_002608.1
AA pos: 229
hgvs_p: NP_002608.1:p.Val229Leu
blosum: 1
SIFT: tolerated (0.34)
PolyPhen2: benign (0.002)
NM_153818.1
[CDS]
Reportable
hgvs_c: NM_153818.1:c.745G>C
reference AA: V
variant AA: L
reference codon: Gtg
variant codon: Ctg
cDNA pos: 814
CDS pos: 745
translation impact: non_synonymous
protein sequence:
NP_722540.1
AA pos: 249
hgvs_p: NP_722540.1:p.Val249Leu
blosum: 1
SIFT: tolerated (0.34)
PolyPhen2: benign (0.001)
dbSNP
rs139345520
GMAF = 0.006589
TOPMED_MAF = 0.00661792813455657
ClinVar
296277
clinvar_significance = Conflicting_interpretations_of_pathogenicity
clinvar_disease = Peroxisome biogenesis disorder 1A (Zellweger)
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000116,0.018207,0.006237
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
183 / 7528 |
2.43% |
| America/Latino |
6 / 8836 |
0.0679% |
| East Asian |
0 / 7122 |
0% |
| Finnish |
0 / 3500 |
0% |
| Non-Finnish |
3 / 51760 |
0.0058% |
| Other |
0 / 638 |
0% |
| South Asian |
0 / 13724 |
0% |
| Total MAF |
192 / 93108 |
0.206% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
517 / 23864 |
2.17% |
| America/Latino |
37 / 34822 |
0.106% |
| Ashkenazi Jewish |
0 / 10134 |
0% |
| East Asian |
0 / 19658 |
0% |
| Finnish |
0 / 23954 |
0% |
| Non-Finnish |
10 / 124976 |
0.008% |
| Other |
7 / 6994 |
0.1% |
| South Asian |
0 / 29958 |
0% |
| Korean |
0 / 3784 |
0% |
| Japanese |
0 / 122 |
0% |
| Other East Asian |
0 / 14192 |
0% |
| Bulgarian |
0 / 2414 |
0% |
| Estonian |
0 / 4820 |
0% |
| North-Western European |
4 / 50150 |
0.00798% |
| Southern European |
2 / 11100 |
0.018% |
| Swedish |
0 / 24972 |
0% |
| Other non-Finnish European |
4 / 31520 |
0.0127% |
| Total MAF |
571 / 274360 |
0.208% |
curated_classification = 4
Export Variant