NM_000612.6:c.158-69C>G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_000612.6(IGF2):c.158-69C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000042 in 1,427,552 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_000612.6 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IGF2 | ENST00000416167.7 | c.158-69C>G | intron_variant | Intron 2 of 3 | 1 | NM_000612.6 | ENSP00000414497.2 | |||
IGF2 | ENST00000381392.5 | c.158-60C>G | intron_variant | Intron 2 of 3 | 1 | ENSP00000370799.1 | ||||
IGF2 | ENST00000381406.8 | c.158-60C>G | intron_variant | Intron 2 of 3 | 2 | ENSP00000370813.4 | ||||
ENSG00000284779 | ENST00000643349.2 | c.*210-69C>G | intron_variant | Intron 3 of 4 | ENSP00000495715.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000420 AC: 6AN: 1427552Hom.: 0 AF XY: 0.00000423 AC XY: 3AN XY: 709032
GnomAD4 genome Cov.: 33
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.