rs3757824
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000643090.1(ENSG00000237773):n.229+2649A>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 0.217 in 384,698 control chromosomes in the GnomAD database, including 9,789 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 |
---|---|---|---|---|---|---|---|
LOC101927609 | XR_007060234.1 | n.262-1151A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000643090.1 | n.229+2649A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.209 AC: 31631AN: 151676Hom.: 3548 Cov.: 31
GnomAD4 exome AF: 0.222 AC: 51683AN: 232904Hom.: 6232 Cov.: 0 AF XY: 0.222 AC XY: 26242AN XY: 118182
GnomAD4 genome AF: 0.209 AC: 31650AN: 151794Hom.: 3557 Cov.: 31 AF XY: 0.209 AC XY: 15544AN XY: 74202
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at