chr15-98649613-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP4_Moderate
The NM_000875.5(IGF1R):c.32C>T(p.Thr11Ile) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,458,330 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000875.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IGF1R | ENST00000650285.1 | c.32C>T | p.Thr11Ile | missense_variant | Exon 1 of 21 | NM_000875.5 | ENSP00000497069.1 | |||
IGF1R | ENST00000559925.5 | n.32C>T | non_coding_transcript_exon_variant | Exon 1 of 10 | 1 | |||||
IGF1R | ENST00000649865.1 | c.32C>T | p.Thr11Ile | missense_variant | Exon 1 of 21 | ENSP00000496919.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1458330Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 725534
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.