rs10491074
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000654191.1(ENSG00000228566):n.517-1324A>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 0.0761 in 152,226 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
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LOC124902439 | XR_007062161.1 | n.498-1324A>G | intron_variant, non_coding_transcript_variant | |||||
LOC124902439 | XR_007062160.1 | n.496-1324A>G | intron_variant, non_coding_transcript_variant | |||||
LOC124902439 | XR_007062163.1 | n.175-1324A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENST00000654191.1 | n.517-1324A>G | intron_variant, non_coding_transcript_variant | ||||||||
ENST00000660795.1 | n.266-1324A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.0759 AC: 11546AN: 152108Hom.: 936 Cov.: 32
GnomAD4 genome AF: 0.0761 AC: 11583AN: 152226Hom.: 940 Cov.: 32 AF XY: 0.0739 AC XY: 5502AN XY: 74428
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at