chr12-48027251-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_001749115.3(LOC105369750):n.227-2520A>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 0.0805 in 152,232 control chromosomes in the GnomAD database, including 519 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_001749115.3 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 |
---|---|---|---|---|---|---|---|
LOC105369750 | XR_001749115.3 | n.227-2520A>G | intron_variant, non_coding_transcript_variant | ||||
LOC105369750 | XR_001749116.3 | n.168-2520A>G | intron_variant, non_coding_transcript_variant | ||||
LOC105369750 | XR_944904.3 | n.227-2520A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes AF: 0.0805 AC: 12242AN: 152114Hom.: 519 Cov.: 32
GnomAD4 genome AF: 0.0805 AC: 12248AN: 152232Hom.: 519 Cov.: 32 AF XY: 0.0809 AC XY: 6024AN XY: 74438
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at