rs11783821
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000522776.5(ENSG00000253503):n.450+2400C>T 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 0.206 in 152,050 control chromosomes in the GnomAD database, including 3,831 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 |
---|---|---|---|---|---|---|---|
LOC105375931 | XR_929115.3 | n.321+32560G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000522776.5 | n.450+2400C>T | intron_variant, non_coding_transcript_variant | 4 | ||||||
ENST00000663058.1 | n.839+32560G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000658531.1 | n.149+32560G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000659043.1 | n.387-19083G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.206 AC: 31331AN: 151932Hom.: 3826 Cov.: 32
GnomAD4 genome ? AF: 0.206 AC: 31358AN: 152050Hom.: 3831 Cov.: 32 AF XY: 0.206 AC XY: 15277AN XY: 74324
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at