16:50745155-50745155 A > -

Classification

Category 2

frameshift

CMH MAF

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

Genes

Consequences
gene: NOD2 synonym(s): ACUG, BLAU, CARD15, CD, CLR16.3, IBD1, NLRC2, NOD2B, PSORAS1, NOD2, ENSG00000167207

NM_022162.1 [CDS] Reportable
hgvs_c: NM_022162.1:c.1334del
reference AA: K
variant AA: X
reference codon: Aag
variant codon: ag
cDNA pos: 1438
CDS pos: 1333
translation impact: frameshift
protein sequence: NP_071445.1
AA pos: 445
hgvs_p: NP_071445.1:p.Lys445ArgfsTer12
blosum: -1

dbSNP

rs1198315856
TOPMED_MAF = 0.00002389143730886

gnomAD

gnomAD
Source: Exome

Ethnicity Count / Number MAF
African 0 / 16158 0%
America/Latino 0 / 34576 0%
Ashkenazi Jewish 0 / 10060 0%
East Asian 0 / 18380 0%
Finnish 0 / 21546 0%
Non-Finnish 4 / 112972 0.00354%
Other 0 / 6126 0%
South Asian 0 / 30614 0%
Korean 0 / 3818 0%
Japanese 0 / 152 0%
Other East Asian 0 / 14410 0%
Bulgarian 0 / 2644 0%
Estonian 0 / 236 0%
North-Western European 2 / 41810 0.00478%
Southern European 1 / 11454 0.00873%
Swedish 0 / 26116 0%
Other non-Finnish European 1 / 30712 0.00326%
Total MAF 4 / 250432 0.0016%


Export Variant

Curation

Likely pathogenic