rs12539126
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_007060537.1(LOC124901750):n.29221+63978A>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 0.13 in 152,176 control chromosomes in the GnomAD database, including 1,534 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_007060537.1 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 |
---|---|---|---|---|---|---|---|
LOC124901750 | XR_007060537.1 | n.29221+63978A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CALD1 | ENST00000417172.5 | c.-130+6323T>C | intron_variant | 5 | P1 | ||||
CALD1 | ENST00000436461.6 | c.-130+5114T>C | intron_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.130 AC: 19783AN: 152058Hom.: 1535 Cov.: 31
GnomAD4 genome ? AF: 0.130 AC: 19782AN: 152176Hom.: 1534 Cov.: 31 AF XY: 0.132 AC XY: 9797AN XY: 74394
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at