rs113413
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000440099.1(ENSG00000231271):n.88+72T>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 0.561 in 706 control chromosomes in the GnomAD database, including 54 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 |
---|---|---|---|---|---|---|---|---|---|
ENST00000440099.1 | n.88+72T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 84188AN: 141026Hom.: 14798 Cov.: 39 FAILED QC
GnomAD4 exome AF: 0.561 AC: 396AN: 706Hom.: 54 AF XY: 0.574 AC XY: 233AN XY: 406
GnomAD4 genome ? Data not reliable, filtered out with message: InbreedingCoeff AF: 0.597 AC: 84276AN: 141128Hom.: 14837 Cov.: 39 AF XY: 0.594 AC XY: 40935AN XY: 68924
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at