7-116482889-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000446355.2(ENSG00000237813):n.127C>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 0.506 in 151,974 control chromosomes in the GnomAD database, including 20,044 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
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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 |
---|---|---|---|---|---|---|---|---|---|
ENST00000446355.2 | n.127C>T | non_coding_transcript_exon_variant | 2/5 | 5 |
Frequencies
GnomAD3 genomes AF: 0.506 AC: 76851AN: 151812Hom.: 20022 Cov.: 31
GnomAD4 exome AF: 0.432 AC: 19AN: 44Hom.: 5 Cov.: 0 AF XY: 0.471 AC XY: 16AN XY: 34
GnomAD4 genome AF: 0.506 AC: 76897AN: 151930Hom.: 20039 Cov.: 31 AF XY: 0.513 AC XY: 38076AN XY: 74262
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at