rs2008312
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000650256.1(ENSG00000293332):n.96T>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 0.328 in 152,108 control chromosomes in the GnomAD database, including 9,149 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 |
---|---|---|---|---|---|---|---|
LOC124907779 | XR_007086461.1 | n.90T>C | non_coding_transcript_exon_variant | 1/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000650256.1 | n.96T>C | non_coding_transcript_exon_variant | 1/4 | ||||||
ENST00000688491.1 | n.90T>C | non_coding_transcript_exon_variant | 1/4 | ||||||
ENST00000691402.1 | n.90T>C | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes ? AF: 0.328 AC: 49850AN: 151990Hom.: 9125 Cov.: 33
GnomAD4 genome ? AF: 0.328 AC: 49915AN: 152108Hom.: 9149 Cov.: 33 AF XY: 0.324 AC XY: 24064AN XY: 74358
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at