ENST00000400348.3:n.87T>C
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000400348.3(CTAGE12P):n.87T>C 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 0.624 in 534,080 control chromosomes in the GnomAD database, including 105,138 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
ENST00000400348.3 non_coding_transcript_exon
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 |
---|---|---|---|---|---|---|---|---|
CTAGE12P | n.27610659A>G | intragenic_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CTAGE12P | ENST00000400348.3 | n.87T>C | non_coding_transcript_exon_variant | Exon 1 of 1 | 6 | |||||
ENSG00000307594 | ENST00000827310.1 | n.697-24273T>C | intron_variant | Intron 3 of 3 | ||||||
ENSG00000307594 | ENST00000827311.1 | n.389-24273T>C | intron_variant | Intron 1 of 1 |
Frequencies
GnomAD3 genomes AF: 0.639 AC: 97160AN: 152036Hom.: 31372 Cov.: 34 show subpopulations
GnomAD4 exome AF: 0.618 AC: 235979AN: 381926Hom.: 73754 Cov.: 2 AF XY: 0.616 AC XY: 133291AN XY: 216286 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.639 AC: 97204AN: 152154Hom.: 31384 Cov.: 34 AF XY: 0.635 AC XY: 47262AN XY: 74370 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at