rs11597709
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_001747341.2(LOC107984198):n.795-512G>A 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 0.0492 in 152,238 control chromosomes in the GnomAD database, including 194 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
XR_001747341.2 intron, non_coding_transcript
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 |
---|---|---|---|---|---|---|---|
LOC107984198 | XR_001747341.2 | n.795-512G>A | intron_variant, non_coding_transcript_variant | ||||
AKR1C3 | NM_001253908.2 | c.85-16176G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AKR1C3 | ENST00000439082.7 | c.85-16176G>A | intron_variant | 5 | A1 | ||||
AKR1C3 | ENST00000602997.5 | c.15+2257G>A | intron_variant | 3 | |||||
AKR1C3 | ENST00000605149.5 | c.15+2257G>A | intron_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0493 AC: 7502AN: 152120Hom.: 195 Cov.: 33
GnomAD4 genome ? AF: 0.0492 AC: 7497AN: 152238Hom.: 194 Cov.: 33 AF XY: 0.0471 AC XY: 3507AN XY: 74442
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at