rs17041907
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000691919.3(ENSG00000287042):n.259-9270A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.061 in 152,086 control chromosomes in the GnomAD database, including 379 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
Consequence
ENST00000691919.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LOC124906217 | XR_007095836.1 | n.86-152T>G | intron_variant | Intron 1 of 2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000287042 | ENST00000691919.3 | n.259-9270A>C | intron_variant | Intron 3 of 3 | ||||||
ENSG00000287042 | ENST00000702385.2 | n.293-9270A>C | intron_variant | Intron 3 of 3 | ||||||
ENSG00000287042 | ENST00000702609.2 | n.217-9270A>C | intron_variant | Intron 3 of 3 |
Frequencies
GnomAD3 genomes AF: 0.0611 AC: 9279AN: 151968Hom.: 378 Cov.: 31 show subpopulations
GnomAD4 genome AF: 0.0610 AC: 9283AN: 152086Hom.: 379 Cov.: 31 AF XY: 0.0623 AC XY: 4633AN XY: 74328 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at