rs17595896
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_005546.4(ITK):c.1398G>A(p.Val466=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000479 in 1,461,748 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. V466V) has been classified as Benign.
Frequency
Consequence
NM_005546.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ITK | NM_005546.4 | c.1398G>A | p.Val466= | synonymous_variant | 13/17 | ENST00000422843.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ITK | ENST00000422843.8 | c.1398G>A | p.Val466= | synonymous_variant | 13/17 | 1 | NM_005546.4 | P1 | |
ITK | ENST00000519749.1 | n.468G>A | non_coding_transcript_exon_variant | 3/6 | 1 | ||||
ITK | ENST00000519402.5 | n.2983G>A | non_coding_transcript_exon_variant | 12/16 | 2 | ||||
ITK | ENST00000696962.1 | c.*175G>A | 3_prime_UTR_variant, NMD_transcript_variant | 12/16 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251180Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135738
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461748Hom.: 0 Cov.: 32 AF XY: 0.00000825 AC XY: 6AN XY: 727190
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at