rs16890720
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000652956.1(ENSG00000231533):n.184+372G>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 0.174 in 151,976 control chromosomes in the GnomAD database, including 2,609 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 |
---|---|---|---|---|---|---|---|
LOC100506851 | XR_001744215.3 | n.1825+372G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000652956.1 | n.184+372G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000654165.1 | n.1898G>A | non_coding_transcript_exon_variant | 2/2 | ||||||
ENST00000653204.1 | n.526+1387G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000653689.1 | n.1497+372G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.174 AC: 26368AN: 151858Hom.: 2612 Cov.: 32
GnomAD4 genome ? AF: 0.174 AC: 26376AN: 151976Hom.: 2609 Cov.: 32 AF XY: 0.168 AC XY: 12461AN XY: 74332
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at