rs10195113
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000649978.1(ENSG00000285898):n.448+10852G>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 0.0448 in 151,980 control chromosomes in the GnomAD database, including 224 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 |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000649978.1 | n.448+10852G>A | intron_variant, non_coding_transcript_variant | |||||||
SLC8A1 | ENST00000405269.5 | c.-25+5438C>T | intron_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0449 AC: 6819AN: 151862Hom.: 224 Cov.: 32
GnomAD4 genome ? AF: 0.0448 AC: 6815AN: 151980Hom.: 224 Cov.: 32 AF XY: 0.0430 AC XY: 3197AN XY: 74284
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at