rs2394186
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_926681.2(LOC105375010):n.1781-241T>C 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 0.161 in 152,210 control chromosomes in the GnomAD database, including 2,007 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_926681.2 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 |
---|---|---|---|---|---|---|---|
LOC105375010 | XR_926681.2 | n.1781-241T>C | intron_variant, non_coding_transcript_variant | ||||
LOC105375010 | XR_926680.3 | n.2192T>C | non_coding_transcript_exon_variant | 3/3 | |||
LOC105375010 | XR_926682.3 | n.711T>C | non_coding_transcript_exon_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes ? AF: 0.161 AC: 24545AN: 152092Hom.: 2002 Cov.: 33
GnomAD4 genome ? AF: 0.161 AC: 24554AN: 152210Hom.: 2007 Cov.: 33 AF XY: 0.160 AC XY: 11913AN XY: 74410
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at