rs11105468
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000651272.1(ENSG00000258216):n.504+13887T>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 0.251 in 152,020 control chromosomes in the GnomAD database, including 4,912 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 |
---|---|---|---|---|---|---|---|
LOC105369890 | XR_001749246.2 | n.649-766T>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000651272.1 | n.504+13887T>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000547370.5 | n.331-766T>A | intron_variant, non_coding_transcript_variant | 4 | ||||||
ENST00000549551.1 | n.172+13887T>A | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.251 AC: 38174AN: 151902Hom.: 4905 Cov.: 32
GnomAD4 genome ? AF: 0.251 AC: 38193AN: 152020Hom.: 4912 Cov.: 32 AF XY: 0.246 AC XY: 18287AN XY: 74296
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at