rs4073397
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000566840.1(ENSG00000260476):n.333G>A 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 0.343 in 152,058 control chromosomes in the GnomAD database, including 9,091 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 |
---|---|---|---|---|---|---|---|---|---|
ENST00000566840.1 | n.333G>A | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes ? AF: 0.343 AC: 52154AN: 151916Hom.: 9077 Cov.: 32
GnomAD4 exome AF: 0.208 AC: 5AN: 24Hom.: 0 Cov.: 0 AF XY: 0.222 AC XY: 4AN XY: 18
GnomAD4 genome ? AF: 0.343 AC: 52188AN: 152034Hom.: 9091 Cov.: 32 AF XY: 0.342 AC XY: 25389AN XY: 74318
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at