rs496547
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000526274.2(ENSG00000255422):n.231+916A>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 0.639 in 151,632 control chromosomes in the GnomAD database, including 31,168 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 |
---|---|---|---|---|---|---|---|
LOC105369519 | XR_007062909.1 | n.482+916A>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000526274.2 | n.231+916A>T | intron_variant, non_coding_transcript_variant | 3 | ||||||
ENST00000646572.2 | n.460+916A>T | intron_variant, non_coding_transcript_variant | |||||||
ENST00000702882.1 | n.389+916A>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.639 AC: 96795AN: 151518Hom.: 31132 Cov.: 29
GnomAD4 genome ? AF: 0.639 AC: 96882AN: 151632Hom.: 31168 Cov.: 29 AF XY: 0.637 AC XY: 47204AN XY: 74052
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at