rs142574480
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 2P and 14B. PM2BP4_ModerateBP6_Very_StrongBS1
The NM_033453.4(ITPA):c.124C>T(p.Leu42=) variant causes a splice region, synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000225 in 1,614,096 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 2/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★★). Synonymous variant affecting the same amino acid position (i.e. L42L) has been classified as Likely benign.
Frequency
Consequence
NM_033453.4 splice_region, synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ITPA | NM_033453.4 | c.124C>T | p.Leu42= | splice_region_variant, synonymous_variant | 2/8 | ENST00000380113.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ITPA | ENST00000380113.8 | c.124C>T | p.Leu42= | splice_region_variant, synonymous_variant | 2/8 | 1 | NM_033453.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000644 AC: 98AN: 152102Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000354 AC: 89AN: 251492Hom.: 1 AF XY: 0.000316 AC XY: 43AN XY: 135920
GnomAD4 exome AF: 0.000181 AC: 265AN: 1461876Hom.: 1 Cov.: 33 AF XY: 0.000186 AC XY: 135AN XY: 727238
GnomAD4 genome ? AF: 0.000644 AC: 98AN: 152220Hom.: 0 Cov.: 32 AF XY: 0.000591 AC XY: 44AN XY: 74422
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Sep 01, 2021 | - - |
Inosine triphosphatase deficiency Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 25, 2024 | - - |
Inosine triphosphatase deficiency;C4225256:Developmental and epileptic encephalopathy, 35 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Fulgent Genetics, Fulgent Genetics | Sep 27, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at