14-94612340-G-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000553947.1(ENSG00000273259):n.*711G>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 0.494 in 1,210,174 control chromosomes in the GnomAD database, including 150,989 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
ENST00000553947.1 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 rank | MANE | Protein | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000273259 | ENST00000553947.1 | n.*711G>T | non_coding_transcript_exon_variant | Exon 4 of 8 | 2 | ENSP00000452367.2 | ||||
ENSG00000273259 | ENST00000553947.1 | n.*711G>T | 3_prime_UTR_variant | Exon 4 of 8 | 2 | ENSP00000452367.2 |
Frequencies
GnomAD3 genomes AF: 0.455 AC: 69145AN: 151824Hom.: 16526 Cov.: 32
GnomAD3 exomes AF: 0.478 AC: 104561AN: 218662Hom.: 26204 AF XY: 0.487 AC XY: 57890AN XY: 118974
GnomAD4 exome AF: 0.500 AC: 528739AN: 1058230Hom.: 134454 Cov.: 14 AF XY: 0.500 AC XY: 264997AN XY: 530010
GnomAD4 genome AF: 0.455 AC: 69172AN: 151944Hom.: 16535 Cov.: 32 AF XY: 0.460 AC XY: 34120AN XY: 74254
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at