rs9332405
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_946310.2(LOC105378477):n.613+21336A>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 0.299 in 151,958 control chromosomes in the GnomAD database, including 7,877 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_946310.2 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 |
---|---|---|---|---|---|---|---|
LOC105378477 | XR_946310.2 | n.613+21336A>T | intron_variant, non_coding_transcript_variant | ||||
LOC105378477 | XR_946308.2 | n.911+21336A>T | intron_variant, non_coding_transcript_variant | ||||
LOC105378477 | XR_946309.2 | n.634+21336A>T | intron_variant, non_coding_transcript_variant | ||||
LOC105378477 | XR_946312.2 | n.912-7152A>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes AF: 0.299 AC: 45370AN: 151840Hom.: 7854 Cov.: 31
GnomAD4 genome AF: 0.299 AC: 45409AN: 151958Hom.: 7877 Cov.: 31 AF XY: 0.307 AC XY: 22787AN XY: 74268
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at