15-47976289-G-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000657831.1(ENSG00000287439):n.408+11348C>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 0.251 in 152,038 control chromosomes in the GnomAD database, including 6,209 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 |
---|---|---|---|---|---|---|---|
LOC124900354 | XR_001751516.3 | n.143-16420G>T | intron_variant, non_coding_transcript_variant | ||||
LOC102724553 | XR_001751520.2 | n.480+11348C>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000657831.1 | n.408+11348C>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000662551.1 | n.189-16420G>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.251 AC: 38207AN: 151920Hom.: 6216 Cov.: 31
GnomAD4 genome AF: 0.251 AC: 38188AN: 152038Hom.: 6209 Cov.: 31 AF XY: 0.248 AC XY: 18422AN XY: 74306
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at