9-34646609-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000450095(GALT):c.-298T>G variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000073 in 1,370,436 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★★).
Frequency
Consequence
ENST00000450095 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
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Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 7.30e-7 AC: 1AN: 1370436Hom.: 0 Cov.: 22 AF XY: 0.00000146 AC XY: 1AN XY: 686028
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Variant summary: GALT c.-96T>G is located in the untranscribed region upstream of the GALT gene region. The variant was absent in 31388 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.-96T>G has been reported in the literature as a compound heterozygous genotype together with a pathogenic variant in an individual affected with Galactosemia (Welling_2017). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 28065439, 31954591, 31845337). ClinVar contains an entry for this variant (Variation ID: 555856). Based on the evidence outlined above, the variant was classified as uncertain significance. -
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Uncertain:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at