7-45921046-G-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000598.5(IGFBP3):āc.95C>Gā(p.Ala32Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.399 in 1,441,040 control chromosomes in the GnomAD database, including 118,622 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_000598.5 missense
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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IGFBP3 | NM_000598.5 | c.95C>G | p.Ala32Gly | missense_variant | 1/5 | ENST00000613132.5 | NP_000589.2 | |
IGFBP3 | NM_001013398.2 | c.95C>G | p.Ala32Gly | missense_variant | 1/5 | NP_001013416.1 | ||
IGFBP3 | XM_047420325.1 | c.95C>G | p.Ala32Gly | missense_variant | 1/4 | XP_047276281.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IGFBP3 | ENST00000613132.5 | c.95C>G | p.Ala32Gly | missense_variant | 1/5 | 5 | NM_000598.5 | ENSP00000477772.2 | ||
IGFBP3 | ENST00000381083.9 | c.95C>G | p.Ala32Gly | missense_variant | 1/5 | 5 | ENSP00000370473.4 | |||
IGFBP3 | ENST00000381086.9 | c.9+86C>G | intron_variant | 2 | ENSP00000370476.4 | |||||
IGFBP3 | ENST00000448817.1 | c.73+581C>G | intron_variant | 4 | ENSP00000389668.1 |
Frequencies
GnomAD3 genomes AF: 0.379 AC: 57281AN: 151182Hom.: 11477 Cov.: 33
GnomAD3 exomes AF: 0.382 AC: 21599AN: 56480Hom.: 4633 AF XY: 0.389 AC XY: 12740AN XY: 32772
GnomAD4 exome AF: 0.402 AC: 518243AN: 1289750Hom.: 107156 Cov.: 43 AF XY: 0.400 AC XY: 254181AN XY: 634912
GnomAD4 genome AF: 0.379 AC: 57274AN: 151290Hom.: 11466 Cov.: 33 AF XY: 0.377 AC XY: 27912AN XY: 73960
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at