rs10483877
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000554926.1(ENSG00000259124):n.194+10560G>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 0.666 in 151,972 control chromosomes in the GnomAD database, including 34,580 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 |
---|---|---|---|---|---|---|---|
LOC105370577 | XR_007064273.1 | n.194-5144G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105370577 | XR_001750834.2 | n.415+2627G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000554926.1 | n.194+10560G>A | intron_variant, non_coding_transcript_variant | 3 | ||||||
VASH1-DT | ENST00000556271.1 | n.204-4098G>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.666 AC: 101186AN: 151854Hom.: 34575 Cov.: 31
GnomAD4 genome ? AF: 0.666 AC: 101224AN: 151972Hom.: 34580 Cov.: 31 AF XY: 0.662 AC XY: 49150AN XY: 74266
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at