rs10519131
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000662958.3(ENSG00000259675):n.89+6182T>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 0.0983 in 152,280 control chromosomes in the GnomAD database, including 845 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LOC107984782 | XR_001751569.2 | n.72+6182T>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENST00000662958.3 | n.89+6182T>G | intron_variant, non_coding_transcript_variant | ||||||||
ENST00000559590.2 | n.61+6182T>G | intron_variant, non_coding_transcript_variant | 3 | |||||||
ENST00000691967.2 | n.80+6182T>G | intron_variant, non_coding_transcript_variant | ||||||||
ENST00000700958.1 | n.44+6182T>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.0984 AC: 14967AN: 152162Hom.: 846 Cov.: 33
GnomAD4 genome AF: 0.0983 AC: 14973AN: 152280Hom.: 845 Cov.: 33 AF XY: 0.0973 AC XY: 7248AN XY: 74454
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at