chr11-111769896-G-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000529841.5(ENSG00000254990):n.218-444C>G 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 0.0871 in 152,050 control chromosomes in the GnomAD database, including 1,893 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
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ALG9 | XR_001747967.3 | n.4035C>G | non_coding_transcript_exon_variant | 19/19 | |||
ALG9 | XR_001747968.3 | n.2710-757C>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000529841.5 | n.218-444C>G | intron_variant, non_coding_transcript_variant | 3 | ||||||
ENST00000534218.1 | n.320-757C>G | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.0870 AC: 13219AN: 151932Hom.: 1887 Cov.: 32
GnomAD4 genome AF: 0.0871 AC: 13250AN: 152050Hom.: 1893 Cov.: 32 AF XY: 0.0847 AC XY: 6297AN XY: 74332
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at