rs10521482
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The ENST00000655874.1(ENSG00000227486):n.353-79719A>T 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 0.00956 in 111,804 control chromosomes in the GnomAD database, including 9 homozygotes. There are 300 hemizygotes in GnomAD. 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 | UniProt |
---|---|---|---|---|---|---|---|
LOC124900486 | XR_007068245.1 | n.597+70173A>T | intron_variant, non_coding_transcript_variant | ||||
KLF8 | NM_001324104.1 | c.22+110293A>T | intron_variant | ||||
KLF8 | NM_001324105.1 | c.-2-124977A>T | intron_variant | ||||
LOC124900486 | XR_007068244.1 | n.17836A>T | non_coding_transcript_exon_variant | 1/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000655874.1 | n.353-79719A>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.00957 AC: 1069AN: 111755Hom.: 9 Cov.: 23 AF XY: 0.00884 AC XY: 300AN XY: 33937
GnomAD4 genome ? AF: 0.00956 AC: 1069AN: 111804Hom.: 9 Cov.: 23 AF XY: 0.00882 AC XY: 300AN XY: 33996
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at