chr8-118821226-T-G
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000625758.3(SAMD12-AS1):n.1320+56842T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000014 in 142,800 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
ENST00000625758.3 intron
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SAMD12-AS1 | ENST00000625758.3 | n.1320+56842T>G | intron_variant | Intron 6 of 7 | 5 | |||||
SAMD12-AS1 | ENST00000629661.1 | n.496-36831T>G | intron_variant | Intron 4 of 4 | 5 | |||||
SAMD12-AS1 | ENST00000658340.1 | n.900+56842T>G | intron_variant | Intron 6 of 7 |
Frequencies
GnomAD3 genomes AF: 0.0000140 AC: 2AN: 142692Hom.: 0 Cov.: 30 show subpopulations
GnomAD4 genome AF: 0.0000140 AC: 2AN: 142800Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 69342 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at