16-50699463-G-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001293557.2(NOD2):c.-33G>T variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.249 in 1,603,308 control chromosomes in the GnomAD database, including 55,389 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001293557.2 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NOD2 | NM_001370466.1 | c.-8-25G>T | intron_variant | Intron 1 of 11 | ENST00000647318.2 | NP_001357395.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.195 AC: 29637AN: 151920Hom.: 3670 Cov.: 31
GnomAD3 exomes AF: 0.201 AC: 49930AN: 248254Hom.: 6355 AF XY: 0.209 AC XY: 28110AN XY: 134740
GnomAD4 exome AF: 0.255 AC: 370354AN: 1451270Hom.: 51718 Cov.: 30 AF XY: 0.254 AC XY: 183388AN XY: 722426
GnomAD4 genome AF: 0.195 AC: 29645AN: 152038Hom.: 3671 Cov.: 31 AF XY: 0.190 AC XY: 14152AN XY: 74318
ClinVar
Submissions by phenotype
not specified Benign:1
This variant is classified as Benign based on local population frequency. This variant was detected in 33% of patients studied by a panel of primary immunodeficiencies. Number of patients: 32. Only high quality variants are reported. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at