rs7879053
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000418272.1(MAGEA13P):n.130C>T 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 0.0759 in 111,434 control chromosomes in the GnomAD database, including 790 homozygotes. There are 2,238 hemizygotes 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
ENST00000418272.1 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
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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 |
---|---|---|---|---|---|---|---|---|---|
MAGEA13P | ENST00000418272.1 | n.130C>T | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes ? AF: 0.0758 AC: 8431AN: 111294Hom.: 789 Cov.: 22 AF XY: 0.0663 AC XY: 2222AN XY: 33524
GnomAD4 exome AF: 0.0330 AC: 3AN: 91Hom.: 0 Cov.: 0 AF XY: 0.0444 AC XY: 2AN XY: 45
GnomAD4 genome ? AF: 0.0759 AC: 8450AN: 111343Hom.: 790 Cov.: 22 AF XY: 0.0666 AC XY: 2236AN XY: 33585
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at