rs11015839
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000654305.1(ENSG00000234244):n.93+3597G>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 0.25 in 152,062 control chromosomes in the GnomAD database, including 4,868 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 |
---|---|---|---|---|---|---|---|
LOC105376440 | XR_930721.2 | n.68+3597G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105376440 | XR_930720.2 | n.51+3597G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000654305.1 | n.93+3597G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000654415.1 | n.78+3597G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.250 AC: 37934AN: 151944Hom.: 4866 Cov.: 32
GnomAD4 genome ? AF: 0.250 AC: 37956AN: 152062Hom.: 4868 Cov.: 32 AF XY: 0.248 AC XY: 18469AN XY: 74326
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at