rs2075821
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_006092.4(NOD1):c.1722G>T(p.Ala574=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000658 in 151,984 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. A574A) has been classified as Benign.
Frequency
Consequence
NM_006092.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NOD1 | NM_006092.4 | c.1722G>T | p.Ala574= | synonymous_variant | 6/14 | ENST00000222823.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NOD1 | ENST00000222823.9 | c.1722G>T | p.Ala574= | synonymous_variant | 6/14 | 1 | NM_006092.4 | P1 | |
NOD1 | ENST00000434755.5 | c.1722G>T | p.Ala574= | synonymous_variant, NMD_transcript_variant | 6/15 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 151984Hom.: 0 Cov.: 33
GnomAD4 exome Cov.: 40
GnomAD4 genome ? AF: 0.00000658 AC: 1AN: 151984Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74232
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at