rs12351590
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000663621.1(ENSG00000224935):n.293+7905C>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 0.878 in 152,036 control chromosomes in the GnomAD database, including 59,345 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
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 |
---|---|---|---|---|---|---|---|
LOC105375976 | XR_929482.3 | n.293+7905C>T | intron_variant, non_coding_transcript_variant | ||||
LOC105375976 | XR_929481.3 | n.166+7905C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000663621.1 | n.293+7905C>T | intron_variant, non_coding_transcript_variant | |||||||
ENST00000452685.1 | n.205+7905C>T | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.878 AC: 133361AN: 151918Hom.: 59319 Cov.: 32
GnomAD4 genome ? AF: 0.878 AC: 133431AN: 152036Hom.: 59345 Cov.: 32 AF XY: 0.871 AC XY: 64766AN XY: 74326
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at