rs60271
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000503650.1(ENSG00000251574):n.328+144326T>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 0.771 in 152,026 control chromosomes in the GnomAD database, including 46,444 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 |
---|---|---|---|---|---|---|---|
LOC105379109 | XR_948647.2 | n.323+20748T>G | intron_variant, non_coding_transcript_variant | ||||
LOC105379109 | XR_948641.4 | n.340-2897T>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000503650.1 | n.328+144326T>G | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.771 AC: 117136AN: 151908Hom.: 46381 Cov.: 31
GnomAD4 genome AF: 0.771 AC: 117257AN: 152026Hom.: 46444 Cov.: 31 AF XY: 0.772 AC XY: 57351AN XY: 74272
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at