ENST00000625758.3:n.1320+56842T>C
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000625758.3(SAMD12-AS1):n.1320+56842T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.811 in 142,742 control chromosomes in the GnomAD database, including 44,611 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
Consequence
ENST00000625758.3 intron
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -12 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>C | intron_variant | Intron 6 of 7 | 5 | |||||
SAMD12-AS1 | ENST00000629661.1 | n.496-36831T>C | intron_variant | Intron 4 of 4 | 5 | |||||
SAMD12-AS1 | ENST00000658340.1 | n.900+56842T>C | intron_variant | Intron 6 of 7 |
Frequencies
GnomAD3 genomes AF: 0.810 AC: 115602AN: 142634Hom.: 44554 Cov.: 30 show subpopulations
GnomAD4 genome AF: 0.811 AC: 115713AN: 142742Hom.: 44611 Cov.: 30 AF XY: 0.804 AC XY: 55750AN XY: 69302 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at