chr15-98962599-A-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_000875.5(IGF1R):c.*5157A>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0182 in 233,648 control chromosomes in the GnomAD database, including 48 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_000875.5 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IGF1R | ENST00000650285.1 | c.*5157A>G | 3_prime_UTR_variant | Exon 21 of 21 | NM_000875.5 | ENSP00000497069.1 | ||||
IGF1R | ENST00000649865.1 | c.*5157A>G | 3_prime_UTR_variant | Exon 21 of 21 | ENSP00000496919.1 | |||||
SYNM-AS1 | ENST00000559468.1 | n.348+3390T>C | intron_variant | Intron 3 of 3 | 4 |
Frequencies
GnomAD3 genomes AF: 0.0184 AC: 2795AN: 152060Hom.: 27 Cov.: 33
GnomAD4 exome AF: 0.0180 AC: 1470AN: 81470Hom.: 21 Cov.: 0 AF XY: 0.0191 AC XY: 716AN XY: 37540
GnomAD4 genome AF: 0.0183 AC: 2791AN: 152178Hom.: 27 Cov.: 33 AF XY: 0.0180 AC XY: 1343AN XY: 74418
ClinVar
Submissions by phenotype
Growth delay due to insulin-like growth factor I resistance Benign:1
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at