rs1009728
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1
The ENST00000269593.5(IGFBP4):c.350-30T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.312 in 1,450,950 control chromosomes in the GnomAD database, including 73,456 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. There are indicators that this mutation may affect the branch point..
Frequency
Consequence
ENST00000269593.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IGFBP4 | NM_001552.3 | c.350-30T>C | intron_variant | ENST00000269593.5 | NP_001543.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IGFBP4 | ENST00000269593.5 | c.350-30T>C | intron_variant | 1 | NM_001552.3 | ENSP00000269593 | P1 |
Frequencies
GnomAD3 genomes AF: 0.295 AC: 44853AN: 151890Hom.: 7061 Cov.: 31
GnomAD3 exomes AF: 0.325 AC: 53028AN: 163000Hom.: 9320 AF XY: 0.334 AC XY: 29398AN XY: 88076
GnomAD4 exome AF: 0.314 AC: 407295AN: 1298942Hom.: 66384 Cov.: 30 AF XY: 0.318 AC XY: 201655AN XY: 634964
GnomAD4 genome AF: 0.295 AC: 44894AN: 152008Hom.: 7072 Cov.: 31 AF XY: 0.298 AC XY: 22173AN XY: 74288
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at