rs1940989
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000584546.5(ENSG00000264151):n.261-59C>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 0.0711 in 152,328 control chromosomes in the GnomAD database, including 482 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 |
---|---|---|---|---|---|---|---|
LOC107985126 | XR_001753535.1 | n.241-59C>T | intron_variant, non_coding_transcript_variant | ||||
LOC107985126 | XR_001753533.1 | n.293-59C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000584546.5 | n.261-59C>T | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.0711 AC: 10819AN: 152170Hom.: 486 Cov.: 32
GnomAD4 exome AF: 0.0500 AC: 2AN: 40Hom.: 0 AF XY: 0.0385 AC XY: 1AN XY: 26
GnomAD4 genome AF: 0.0711 AC: 10833AN: 152288Hom.: 482 Cov.: 32 AF XY: 0.0697 AC XY: 5189AN XY: 74474
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at