rs1453405
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_002959433.2(LOC102724081):n.25091+5310A>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 0.395 in 152,080 control chromosomes in the GnomAD database, including 12,435 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_002959433.2 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 |
---|---|---|---|---|---|---|---|
LOC102724081 | XR_002959433.2 | n.25091+5310A>G | intron_variant, non_coding_transcript_variant | ||||
LOC102724081 | XR_007087285.1 | n.25091+5310A>G | intron_variant, non_coding_transcript_variant | ||||
LOC102724081 | XR_007087286.1 | n.25091+5310A>G | intron_variant, non_coding_transcript_variant | ||||
LOC102724081 | XR_923566.3 | n.25091+5310A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes ? AF: 0.395 AC: 60040AN: 151928Hom.: 12429 Cov.: 32
GnomAD4 exome AF: 0.382 AC: 13AN: 34Hom.: 3 AF XY: 0.367 AC XY: 11AN XY: 30
GnomAD4 genome ? AF: 0.395 AC: 60060AN: 152046Hom.: 12432 Cov.: 32 AF XY: 0.397 AC XY: 29489AN XY: 74306
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at