X-141136365-G-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000670989.1(LDOC1):n.207-16793C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000902 in 110,815 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. 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
Consequence
ENST00000670989.1 intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LDOC1 | ENST00000670989.1 | n.207-16793C>A | intron_variant | Intron 1 of 2 |
Frequencies
GnomAD3 genomes AF: 0.00000902 AC: 1AN: 110815Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 33059
GnomAD4 genome AF: 0.00000902 AC: 1AN: 110815Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 33059
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at