X-33793724-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000439992.6(ENSG00000233928):n.198-59891C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.35 in 107,622 control chromosomes in the GnomAD database, including 5,467 homozygotes. There are 9,023 hemizygotes in GnomAD. 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
Consequence
ENST00000439992.6 intron
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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LOC105373153 | XR_950542.4 | n.271-59891C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000233928 | ENST00000439992.6 | n.198-59891C>T | intron_variant | 5 | ||||||
ENSG00000233928 | ENST00000445233.1 | n.17+51590C>T | intron_variant | 5 | ||||||
ENSG00000233928 | ENST00000653446.1 | n.186-59891C>T | intron_variant |
Frequencies
GnomAD3 genomes AF: 0.350 AC: 37603AN: 107572Hom.: 5469 Cov.: 23 AF XY: 0.296 AC XY: 8995AN XY: 30368
GnomAD4 genome AF: 0.350 AC: 37624AN: 107622Hom.: 5467 Cov.: 23 AF XY: 0.297 AC XY: 9023AN XY: 30428
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at