rs3827266
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000693093.2(ENSG00000288885):n.287C>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 0.346 in 152,014 control chromosomes in the GnomAD database, including 9,276 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 |
---|---|---|---|---|---|---|---|
SLC19A1 | NM_001352511.3 | c.-50+6808G>A | intron_variant | ||||
SLC19A1 | XM_011529696.3 | c.-138+6808G>A | intron_variant | ||||
SLC19A1 | XM_011529700.3 | c.-50+6808G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000693093.2 | n.287C>T | non_coding_transcript_exon_variant | 1/1 | ||||||
SLC19A1 | ENST00000650808.1 | c.-50+6808G>A | intron_variant | A2 |
Frequencies
GnomAD3 genomes AF: 0.346 AC: 52527AN: 151896Hom.: 9265 Cov.: 33
GnomAD4 genome AF: 0.346 AC: 52571AN: 152014Hom.: 9276 Cov.: 33 AF XY: 0.350 AC XY: 26000AN XY: 74294
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at