chr8-118818441-A-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000625758.3(SAMD12-AS1):n.1320+54057A>C 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 0.116 in 152,256 control chromosomes in the GnomAD database, including 1,266 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, non_coding_transcript
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 |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SAMD12-AS1 | ENST00000625758.3 | n.1320+54057A>C | intron_variant, non_coding_transcript_variant | 5 | |||||
SAMD12-AS1 | ENST00000629661.1 | n.496-39616A>C | intron_variant, non_coding_transcript_variant | 5 | |||||
SAMD12-AS1 | ENST00000658340.1 | n.900+54057A>C | intron_variant, non_coding_transcript_variant | ||||||
SAMD12-AS1 | ENST00000664584.1 | n.760+54057A>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.116 AC: 17693AN: 152138Hom.: 1261 Cov.: 33
GnomAD4 genome AF: 0.116 AC: 17714AN: 152256Hom.: 1266 Cov.: 33 AF XY: 0.111 AC XY: 8296AN XY: 74446
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at