rs10142843
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000652140.1(ENSG00000258028):n.364+111A>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 0.578 in 151,990 control chromosomes in the GnomAD database, including 25,688 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 |
---|---|---|---|---|---|---|---|
LOC102724934 | XR_007064104.1 | n.1053+22076T>C | intron_variant, non_coding_transcript_variant | ||||
LOC102724934 | XR_001750707.2 | n.765+22076T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000652140.1 | n.364+111A>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000652247.1 | n.840+6961T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.578 AC: 87757AN: 151872Hom.: 25657 Cov.: 32
GnomAD4 genome ? AF: 0.578 AC: 87832AN: 151990Hom.: 25688 Cov.: 32 AF XY: 0.572 AC XY: 42476AN XY: 74280
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at