rs3996352
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_927978.3(LOC105375508):n.178+22185A>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 0.4 in 151,932 control chromosomes in the GnomAD database, including 12,964 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_927978.3 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC105375508 | XR_927978.3 | n.178+22185A>G | intron_variant, non_coding_transcript_variant | ||||
LOC105375508 | XR_007060527.1 | n.178+22185A>G | intron_variant, non_coding_transcript_variant | ||||
LOC105375508 | XR_927976.3 | n.178+22185A>G | intron_variant, non_coding_transcript_variant | ||||
LOC105375508 | XR_927977.3 | n.178+22185A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes ? AF: 0.401 AC: 60829AN: 151814Hom.: 12958 Cov.: 31
GnomAD4 genome ? AF: 0.400 AC: 60847AN: 151932Hom.: 12964 Cov.: 31 AF XY: 0.397 AC XY: 29478AN XY: 74242
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at