1:2338250-2338250 C > G

Classification

Category 4

Common ExAC MAF

original cat: TYPE_3 - non_synonymous

CMH MAF

33 / 8745 samples (0.377%)
32 het., 1 hom. (97%)
34 / 17490 total alleles (0.194%)

Genes

Consequences
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 = Zellweger syndrome
clinvar_submission_scv = SCV000511689.1

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 505 / 23028 2.19%
America/Latino 36 / 33964 0.106%
Ashkenazi Jewish 0 / 9952 0%
East Asian 0 / 18668 0%
Finnish 0 / 24396 0%
Non-Finnish 9 / 122842 0.00733%
Other 5 / 6260 0.0799%
South Asian 0 / 30122 0%
Total MAF 555 / 269232 0.206%


Export Variant

Curation

Likely Benign