rs9783068
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The ENST00000452176.2(ENSG00000293331):n.20+306A>G variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000412 in 130,916 control chromosomes in the GnomAD database, including 8 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 Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000634337.2 | n.161-22769A>G | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.000413 AC: 54AN: 130868Hom.: 8 Cov.: 26
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000595 AC: 14AN: 235428Hom.: 2 AF XY: 0.0000920 AC XY: 11AN XY: 119618
GnomAD4 genome AF: 0.000412 AC: 54AN: 130916Hom.: 8 Cov.: 26 AF XY: 0.000487 AC XY: 31AN XY: 63638
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at