chr12-53876444-C-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000663306.1(ENSG00000286069):n.573+1196C>A 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 0.272 in 152,058 control chromosomes in the GnomAD database, including 6,846 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 |
---|---|---|---|---|---|---|---|
LOC107984525 | XR_002957415.2 | n.452-19753C>A | intron_variant, non_coding_transcript_variant | ||||
LOC107984525 | XR_001749153.2 | n.375+1196C>A | intron_variant, non_coding_transcript_variant | ||||
LOC107984525 | XR_007063319.1 | n.1494+1196C>A | intron_variant, non_coding_transcript_variant | ||||
LOC107984525 | XR_007063320.1 | n.322+1196C>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000663306.1 | n.573+1196C>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000652339.1 | n.509+15566C>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000654713.1 | n.318-19753C>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000656247.1 | n.345-19753C>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.272 AC: 41335AN: 151938Hom.: 6849 Cov.: 32
GnomAD4 genome AF: 0.272 AC: 41325AN: 152058Hom.: 6846 Cov.: 32 AF XY: 0.267 AC XY: 19835AN XY: 74302
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at