3-121781725-G-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001023570.4(IQCB1):c.1410+18C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000687 in 1,455,176 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001023570.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IQCB1 | ENST00000310864.11 | c.1410+18C>A | intron_variant | Intron 13 of 14 | 1 | NM_001023570.4 | ENSP00000311505.6 | |||
IQCB1 | ENST00000349820.10 | c.1011+18C>A | intron_variant | Intron 10 of 11 | 1 | ENSP00000323756.7 | ||||
IQCB1 | ENST00000393650.7 | n.*388+18C>A | intron_variant | Intron 12 of 13 | 5 | ENSP00000377261.3 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 6.87e-7 AC: 1AN: 1455176Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 724230
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.