15-47988014-A-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000657831.1(ENSG00000287439):n.31T>A variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0702 in 152,292 control chromosomes in the GnomAD database, including 1,020 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LOC124900354 | XR_001751516.3 | n.143-4695A>T | intron_variant, non_coding_transcript_variant | |||||
LOC102724553 | XR_001751520.2 | n.263-160T>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENST00000657831.1 | n.31T>A | non_coding_transcript_exon_variant | 1/3 | |||||||
ENST00000662551.1 | n.189-4695A>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.0699 AC: 10641AN: 152174Hom.: 1014 Cov.: 33
GnomAD4 genome AF: 0.0702 AC: 10686AN: 152292Hom.: 1020 Cov.: 33 AF XY: 0.0692 AC XY: 5153AN XY: 74478
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at