rs45598332
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_000875.5(IGF1R):c.1956T>C(p.Pro652=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. P652P) has been classified as Likely benign.
Frequency
Consequence
NM_000875.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IGF1R | NM_000875.5 | c.1956T>C | p.Pro652= | synonymous_variant | 9/21 | ENST00000650285.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IGF1R | ENST00000650285.1 | c.1956T>C | p.Pro652= | synonymous_variant | 9/21 | NM_000875.5 | P4 | ||
IGF1R | ENST00000559925.5 | n.1956T>C | non_coding_transcript_exon_variant | 9/10 | 1 | ||||
IGF1R | ENST00000649865.1 | c.1956T>C | p.Pro652= | synonymous_variant | 9/21 | A1 | |||
IGF1R | ENST00000560144.1 | c.187T>C | p.Ser63Pro | missense_variant, NMD_transcript_variant | 2/4 | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 32
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at