chr18-3448764-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_007066269.1(LOC124904237):n.126-1578C>T variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.32 in 135,872 control chromosomes in the GnomAD database, including 7,728 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.
Frequency
Consequence
XR_007066269.1 intron, non_coding_transcript
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 | UniProt |
---|---|---|---|---|---|---|---|
LOC124904237 | XR_007066269.1 | n.126-1578C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TGIF1 | ENST00000401449.5 | c.-44-7590G>A | intron_variant | 2 | |||||
TGIF1 | ENST00000548489.6 | c.-44-7590G>A | intron_variant | 3 | |||||
TGIF1 | ENST00000549780.5 | c.-45+167G>A | intron_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.320 AC: 43386AN: 135790Hom.: 7696 Cov.: 21
GnomAD4 genome AF: 0.320 AC: 43449AN: 135872Hom.: 7728 Cov.: 21 AF XY: 0.326 AC XY: 21132AN XY: 64852
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at