rs1013490
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000552238.1(ENSG00000258131):n.39+84436T>C 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 0.0767 in 152,198 control chromosomes in the GnomAD database, including 595 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 |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000552238.1 | n.39+84436T>C | intron_variant, non_coding_transcript_variant | 4 | ||||||
ENST00000668647.1 | n.297+36707T>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000666269.1 | n.256-19576T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0767 AC: 11658AN: 152080Hom.: 591 Cov.: 33
GnomAD4 genome ? AF: 0.0767 AC: 11676AN: 152198Hom.: 595 Cov.: 33 AF XY: 0.0809 AC XY: 6023AN XY: 74420
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at