chr9-101435912-C-T
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BS1BS2
The ENST00000648064.1(ALDOB):​c.-10-5015G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00679 in 152,140 control chromosomes in the GnomAD database, including 5 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
ENST00000648064.1 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ALDOB | ENST00000648064.1 | c.-10-5015G>A | intron_variant | Intron 1 of 8 | ENSP00000497990.1 | |||||
ALDOB | ENST00000648758.1 | c.-10-5015G>A | intron_variant | Intron 1 of 8 | ENSP00000497731.1 | |||||
ALDOB | ENST00000648423.1 | c.-64-150G>A | intron_variant | Intron 1 of 3 | ENSP00000497985.1 |
Frequencies
GnomAD3 genomes AF: 0.00680 AC: 1034AN: 152022Hom.: 5 Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 10Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 10
GnomAD4 genome AF: 0.00679 AC: 1033AN: 152140Hom.: 5 Cov.: 32 AF XY: 0.00622 AC XY: 463AN XY: 74398
ClinVar
Submissions by phenotype
not provided Uncertain:3Benign:1
Functional studies found that this variant causes loss of transcription from the promoter (Coffee et al., 2010); Nucleotide substitution has no predicted effect on splicing and is not conserved across species; This variant is associated with the following publications: (PMID: 20882353, 25910213) -
ALDOB: BS1, BS2 -
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BS1 -
Hereditary fructosuria Pathogenic:1Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at