3-8853172-T-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The XR_001740594.2(LOC107984112):n.6935-224A>G 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 0.000145 in 151,850 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
XR_001740594.2 intron, non_coding_transcript
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC107984112 | XR_001740594.2 | n.6935-224A>G | intron_variant, non_coding_transcript_variant | ||||
LOC107984112 | XR_001740593.2 | n.8074A>G | non_coding_transcript_exon_variant | 1/3 | |||
LOC107984112 | XR_007095814.1 | n.8074A>G | non_coding_transcript_exon_variant | 1/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RAD18 | ENST00000427329.5 | c.294+37217A>G | intron_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.000145 AC: 22AN: 151850Hom.: 0 Cov.: 31
GnomAD4 genome ? AF: 0.000145 AC: 22AN: 151850Hom.: 0 Cov.: 31 AF XY: 0.000135 AC XY: 10AN XY: 74152
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at