6-112803099-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_001744301.2(LOC107986634):n.59+43663G>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 0.816 in 151,748 control chromosomes in the GnomAD database, including 51,268 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_001744301.2 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 |
---|---|---|---|---|---|---|---|
LOC107986634 | XR_001744301.2 | n.59+43663G>A | intron_variant, non_coding_transcript_variant | ||||
LOC107986634 | XR_001744300.1 | n.60-33515G>A | intron_variant, non_coding_transcript_variant | ||||
LOC107986634 | XR_001744302.1 | n.60-33515G>A | intron_variant, non_coding_transcript_variant | ||||
LOC107986634 | XR_001744303.1 | n.60-33515G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes AF: 0.816 AC: 123711AN: 151630Hom.: 51253 Cov.: 31
GnomAD4 genome AF: 0.816 AC: 123765AN: 151748Hom.: 51268 Cov.: 31 AF XY: 0.817 AC XY: 60619AN XY: 74188
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at