rs10861032
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000650784.1(ENSG00000286197):n.698A>G 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 0.24 in 152,080 control chromosomes in the GnomAD database, including 5,607 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
C12orf42 | XM_011538294.3 | c.36+5384A>G | intron_variant | XP_011536596.1 | ||||
C12orf42 | XM_011538306.2 | c.36+5384A>G | intron_variant | XP_011536608.1 | ||||
C12orf42 | XM_011538312.3 | c.36+5384A>G | intron_variant | XP_011536614.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENST00000650784.1 | n.698A>G | non_coding_transcript_exon_variant | 4/4 |
Frequencies
GnomAD3 genomes AF: 0.240 AC: 36502AN: 151962Hom.: 5587 Cov.: 32
GnomAD4 genome AF: 0.240 AC: 36568AN: 152080Hom.: 5607 Cov.: 32 AF XY: 0.244 AC XY: 18177AN XY: 74344
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at