rs2734986
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000647952.1(ENSG00000290870):n.2321-162A>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 0.104 in 152,172 control chromosomes in the GnomAD database, including 1,109 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 |
---|---|---|---|---|---|---|---|
LOC105375010 | XR_926681.2 | n.207-162A>G | intron_variant, non_coding_transcript_variant | ||||
LOC105375010 | XR_926680.3 | n.207-162A>G | intron_variant, non_coding_transcript_variant | ||||
LOC105375010 | XR_926682.3 | n.206+1531A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000647952.1 | n.2321-162A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.104 AC: 15780AN: 152054Hom.: 1109 Cov.: 31
GnomAD4 genome AF: 0.104 AC: 15773AN: 152172Hom.: 1109 Cov.: 31 AF XY: 0.0987 AC XY: 7345AN XY: 74398
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at