rs70958396
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 1P and 4B. PP2BP4_Strong
The NM_000875.5(IGF1R):c.2278G>A(p.Ala760Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000124 in 1,614,060 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000875.5 missense
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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IGF1R | NM_000875.5 | c.2278G>A | p.Ala760Thr | missense_variant | 11/21 | ENST00000650285.1 | NP_000866.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IGF1R | ENST00000650285.1 | c.2278G>A | p.Ala760Thr | missense_variant | 11/21 | NM_000875.5 | ENSP00000497069 | P4 | ||
IGF1R | ENST00000649865.1 | c.2278G>A | p.Ala760Thr | missense_variant | 11/21 | ENSP00000496919 | A1 | |||
IGF1R | ENST00000561049.1 | n.469G>A | non_coding_transcript_exon_variant | 2/3 | 5 | |||||
IGF1R | ENST00000560144.1 | c.*236G>A | 3_prime_UTR_variant, NMD_transcript_variant | 4/4 | 3 | ENSP00000456950 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152194Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000795 AC: 2AN: 251460Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135900
GnomAD4 exome AF: 0.0000109 AC: 16AN: 1461866Hom.: 0 Cov.: 32 AF XY: 0.00000963 AC XY: 7AN XY: 727236
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152194Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74352
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at