rs4471448
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_002957260.2(LOC107984361):n.319-510A>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 0.301 in 152,090 control chromosomes in the GnomAD database, including 8,195 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_002957260.2 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 |
---|---|---|---|---|---|---|---|
LOC107984361 | XR_002957260.2 | n.319-510A>G | intron_variant, non_coding_transcript_variant | ||||
LOC107984361 | XR_001748316.2 | n.318+9806A>G | intron_variant, non_coding_transcript_variant | ||||
LOC107984361 | XR_002957261.2 | n.318+9806A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes ? AF: 0.301 AC: 45746AN: 151972Hom.: 8202 Cov.: 32
GnomAD4 genome ? AF: 0.301 AC: 45726AN: 152090Hom.: 8195 Cov.: 32 AF XY: 0.295 AC XY: 21944AN XY: 74332
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at