1-44088785-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000434244.5(ENSG00000230615):n.931-12775C>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 0.47 in 151,868 control chromosomes in the GnomAD database, including 17,054 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 |
---|---|---|---|---|---|---|---|
KLF17 | XM_011540700.2 | c.-31+37291C>T | intron_variant | ||||
KLF17 | XM_047445936.1 | c.-31+37254C>T | intron_variant | ||||
KLF17 | XM_047445938.1 | c.-31+37254C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000434244.5 | n.931-12775C>T | intron_variant, non_coding_transcript_variant | 1 | ||||||
ENST00000616338.2 | n.397-12775C>T | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes AF: 0.470 AC: 71319AN: 151748Hom.: 17030 Cov.: 31
GnomAD4 genome AF: 0.470 AC: 71401AN: 151868Hom.: 17054 Cov.: 31 AF XY: 0.474 AC XY: 35191AN XY: 74212
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at