rs2275163
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003679.5(KMO):c.809+142C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000144 in 693,764 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.
Frequency
Consequence
NM_003679.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KMO | NM_003679.5 | c.809+142C>A | intron_variant | ENST00000366559.9 | |||
KMO | NM_001410944.1 | c.809+142C>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KMO | ENST00000366559.9 | c.809+142C>A | intron_variant | 1 | NM_003679.5 | P2 | |||
KMO | ENST00000366558.7 | c.809+142C>A | intron_variant | 1 | A2 | ||||
KMO | ENST00000366557.8 | c.809+142C>A | intron_variant | 5 | |||||
KMO | ENST00000431245.2 | n.398+142C>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000144 AC: 1AN: 693764Hom.: 0 AF XY: 0.00000273 AC XY: 1AN XY: 365672
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at