rs117836686
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP6BS1
The NM_001370466.1(NOD2):c.665A>G(p.Glu222Gly) variant causes a missense change. The variant allele was found at a frequency of 0.000483 in 1,614,194 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E222K) has been classified as Uncertain significance.
Frequency
Consequence
NM_001370466.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NOD2 | NM_001370466.1 | c.665A>G | p.Glu222Gly | missense_variant | 4/12 | ENST00000647318.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NOD2 | ENST00000647318.2 | c.665A>G | p.Glu222Gly | missense_variant | 4/12 | NM_001370466.1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000223 AC: 34AN: 152186Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000155 AC: 39AN: 251372Hom.: 0 AF XY: 0.000125 AC XY: 17AN XY: 135864
GnomAD4 exome AF: 0.000510 AC: 746AN: 1461890Hom.: 1 Cov.: 31 AF XY: 0.000474 AC XY: 345AN XY: 727246
GnomAD4 genome ? AF: 0.000223 AC: 34AN: 152304Hom.: 0 Cov.: 32 AF XY: 0.000134 AC XY: 10AN XY: 74464
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | Mar 13, 2020 | The NOD2 c.746A>G; p.Glu249Gly variant (rs117836686), to our knowledge, is not reported in the medical literature or gene specific databases. The variant is reported in the ClinVar database (Variation ID: 531608) and is found in the European (non-Finnish) population with an allele frequency of 0.03% (39/129,102 alleles) in the Genome Aggregation Database. The glutamic acid at codon 249 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Gly249Gly variant is uncertain at this time. - |
Regional enteritis;C5201146:Blau syndrome Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 06, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at