rs6801020
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000659139.2(ENSG00000287706):n.304-2188G>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 0.111 in 152,028 control chromosomes in the GnomAD database, including 1,870 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 |
---|---|---|---|---|---|---|---|
LOC102724289 | XR_924590.3 | n.296-2188G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000659139.2 | n.304-2188G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000693350.1 | n.251-1141G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000700832.1 | n.280-2188G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.111 AC: 16802AN: 151910Hom.: 1861 Cov.: 32
GnomAD4 genome AF: 0.111 AC: 16837AN: 152028Hom.: 1870 Cov.: 32 AF XY: 0.109 AC XY: 8138AN XY: 74336
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at