rs576523
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000620690.1(ENSG00000275801):n.262+61C>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 0.923 in 152,278 control chromosomes in the GnomAD database, including 65,859 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 |
---|---|---|---|---|---|---|---|
LOC105371470 | XR_001738267.2 | n.455+33C>T | intron_variant, non_coding_transcript_variant | ||||
LOC105371470 | XR_007066688.1 | n.447C>T | non_coding_transcript_exon_variant | 2/2 | |||
LOC105371470 | XR_922205.3 | n.414+33C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000620690.1 | n.262+61C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.923 AC: 140401AN: 152104Hom.: 65808 Cov.: 32
GnomAD4 exome AF: 1.00 AC: 56AN: 56Hom.: 28 Cov.: 0 AF XY: 1.00 AC XY: 48AN XY: 48
GnomAD4 genome ? AF: 0.923 AC: 140475AN: 152222Hom.: 65831 Cov.: 32 AF XY: 0.925 AC XY: 68850AN XY: 74428
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at