rs1326021
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000458731.1(ENSG00000235594):n.954C>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 0.647 in 152,096 control chromosomes in the GnomAD database, including 33,134 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 |
---|---|---|---|---|---|---|---|---|---|
ENST00000458731.1 | n.954C>T | non_coding_transcript_exon_variant | 2/2 |
Frequencies
GnomAD3 genomes ? AF: 0.647 AC: 98338AN: 151968Hom.: 33133 Cov.: 32
GnomAD4 exome AF: 0.500 AC: 5AN: 10Hom.: 1 Cov.: 0 AF XY: 0.667 AC XY: 4AN XY: 6
GnomAD4 genome ? AF: 0.647 AC: 98366AN: 152086Hom.: 33133 Cov.: 32 AF XY: 0.651 AC XY: 48400AN XY: 74342
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at