rs3824830
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000687829.2(ENSG00000289126):n.221A>G 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 0.401 in 985,192 control chromosomes in the GnomAD database, including 81,559 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 |
---|---|---|---|---|---|---|---|---|---|
ENST00000687829.2 | n.221A>G | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes ? AF: 0.324 AC: 49279AN: 151964Hom.: 8754 Cov.: 33
GnomAD4 exome AF: 0.415 AC: 345783AN: 833110Hom.: 72804 Cov.: 31 AF XY: 0.415 AC XY: 159848AN XY: 384714
GnomAD4 genome ? AF: 0.324 AC: 49291AN: 152082Hom.: 8755 Cov.: 33 AF XY: 0.323 AC XY: 23990AN XY: 74352
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at