rs263640
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000649137.1(ENSG00000237153):n.1591-29796G>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 0.242 in 152,054 control chromosomes in the GnomAD database, including 8,948 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 |
---|---|---|---|---|---|---|---|
LOC105375983 | XR_001746628.1 | n.151-1119G>A | intron_variant, non_coding_transcript_variant | ||||
LOC124902126 | XR_007061426.1 | n.90+402C>T | intron_variant, non_coding_transcript_variant | ||||
LOC105375983 | XR_001746629.2 | n.392+334G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105375983 | XR_001746630.2 | n.392+334G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000649137.1 | n.1591-29796G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000430545.4 | n.270+334G>A | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.242 AC: 36694AN: 151936Hom.: 8914 Cov.: 32
GnomAD4 genome ? AF: 0.242 AC: 36778AN: 152054Hom.: 8948 Cov.: 32 AF XY: 0.232 AC XY: 17264AN XY: 74336
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at