1:151378742-151378742 G > T

Classification

Category 3

non_synonymous

CMH MAF

2 / 13144 samples (0.0152%)
2 het., 0 hom. (100%)
2 / 26288 total alleles (0.00761%)

Genes

Consequences
gene: POGZ synonym(s): ZNF280E, ZNF635, ZNF635m, POGZ, ENSG00000143442

NM_001194937.1 [CDS]
hgvs_c: NM_001194937.1:c.2742C>A
reference AA: H
variant AA: Q
reference codon: caC
variant codon: caA
cDNA pos: 3057
CDS pos: 2742
translation impact: non_synonymous
protein sequence: NP_001181866.1
AA pos: 914
hgvs_p: NP_001181866.1:p.His914Gln
blosum: 0
SIFT: tolerated (0.52)
PolyPhen2: benign (0.0)

NM_001194938.1 [CDS]
hgvs_c: NM_001194938.1:c.2583C>A
reference AA: H
variant AA: Q
reference codon: caC
variant codon: caA
cDNA pos: 2898
CDS pos: 2583
translation impact: non_synonymous
protein sequence: NP_001181867.1
AA pos: 861
hgvs_p: NP_001181867.1:p.His861Gln
blosum: 0
SIFT: tolerated (0.53)
PolyPhen2: benign (0.001)

NM_015100.3 [CDS] Reportable
hgvs_c: NM_015100.3:c.2769C>A
reference AA: H
variant AA: Q
reference codon: caC
variant codon: caA
cDNA pos: 3084
CDS pos: 2769
translation impact: non_synonymous
protein sequence: NP_055915.2
AA pos: 923
hgvs_p: NP_055915.2:p.His923Gln
blosum: 0
SIFT: tolerated (0.52)
PolyPhen2: benign (0.001)

NM_145796.3 [CDS]
hgvs_c: NM_145796.3:c.2484C>A
reference AA: H
variant AA: Q
reference codon: caC
variant codon: caA
cDNA pos: 2799
CDS pos: 2484
translation impact: non_synonymous
protein sequence: NP_665739.3
AA pos: 828
hgvs_p: NP_665739.3:p.His828Gln
blosum: 0
SIFT: tolerated (0.54)
PolyPhen2: benign (0.002)

NM_207171.2 [CDS]
hgvs_c: NM_207171.2:c.2610C>A
reference AA: H
variant AA: Q
reference codon: caC
variant codon: caA
cDNA pos: 2611
CDS pos: 2610
translation impact: non_synonymous
protein sequence: NP_997054.1
AA pos: 870
hgvs_p: NP_997054.1:p.His870Gln
blosum: 0
SIFT: tolerated (0.53)
PolyPhen2: benign (0.002)

dbSNP

rs1452592216
TOPMED_MAF = 0.00000796381243628

Export Variant

Curation

Uncertain Significance