rs11155053
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000403909.2(ENSG00000218565):n.768C>T 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 0.104 in 545,186 control chromosomes in the GnomAD database, including 3,563 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 |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000403909.2 | n.768C>T | non_coding_transcript_exon_variant | 2/2 | ||||||
ENST00000650173.1 | n.509+51973C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.111 AC: 16898AN: 152064Hom.: 1092 Cov.: 33
GnomAD4 exome AF: 0.101 AC: 39770AN: 393004Hom.: 2471 Cov.: 4 AF XY: 0.0989 AC XY: 20846AN XY: 210696
GnomAD4 genome ? AF: 0.111 AC: 16893AN: 152182Hom.: 1092 Cov.: 33 AF XY: 0.111 AC XY: 8271AN XY: 74408
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at