rs13017846
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000703001.1(ENSG00000287255):n.167-2538A>G 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 0.0733 in 152,218 control chromosomes in the GnomAD database, including 940 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 |
---|---|---|---|---|---|---|---|
LOC101929667 | XR_007086295.1 | n.167-2538A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000703001.1 | n.167-2538A>G | intron_variant, non_coding_transcript_variant | |||||||
SLC8A1 | ENST00000405269.5 | c.-25+80279T>C | intron_variant | 5 | |||||
ENST00000688930.1 | n.263-2538A>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000703033.1 | n.247-2538A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0733 AC: 11142AN: 152100Hom.: 938 Cov.: 32
GnomAD4 genome ? AF: 0.0733 AC: 11152AN: 152218Hom.: 940 Cov.: 32 AF XY: 0.0771 AC XY: 5737AN XY: 74408
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at