rs8177220
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001063.4(TF):c.502+110G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000848 in 1,061,288 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_001063.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TF | NM_001063.4 | c.502+110G>A | intron_variant | Intron 4 of 16 | ENST00000402696.9 | NP_001054.2 | ||
TF | NM_001354703.2 | c.370+110G>A | intron_variant | Intron 10 of 22 | NP_001341632.2 | |||
TF | NM_001354704.2 | c.121+110G>A | intron_variant | Intron 3 of 15 | NP_001341633.2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000848 AC: 9AN: 1061288Hom.: 0 AF XY: 0.00000733 AC XY: 4AN XY: 545412
GnomAD4 genome Cov.: 32
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.