9-34646584-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000605275.1(GALT):n.209-93C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000562 in 1,298,276 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
ENST00000605275.1 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 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 |
---|---|---|---|---|---|---|---|---|---|---|
GALT | ENST00000605275.1 | n.209-93C>G | intron_variant | Intron 1 of 1 | 3 | |||||
GALT | ENST00000450095.6 | c.-323C>G | upstream_gene_variant | 2 | ENSP00000401956.2 | |||||
GALT | ENST00000468099.2 | n.-49C>G | upstream_gene_variant | 4 | ||||||
ENSG00000258728 | ENST00000691183.1 | n.-121C>G | upstream_gene_variant | ENSP00000509954.1 |
Frequencies
GnomAD3 genomes AF: 0.000184 AC: 28AN: 152206Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000323 AC: 37AN: 1145952Hom.: 0 Cov.: 16 AF XY: 0.0000377 AC XY: 22AN XY: 582850
GnomAD4 genome AF: 0.000236 AC: 36AN: 152324Hom.: 0 Cov.: 32 AF XY: 0.000309 AC XY: 23AN XY: 74468
ClinVar
Submissions by phenotype
not specified Uncertain:1
Variant summary: GALT c.-121C>G is located in the untranscribed region upstream of the GALT gene region. The variant allele was found at a frequency of 0.00013 in 31394 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.-121C>G in individuals affected with Galactosemia and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance. -
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Uncertain:1
This variant occurs in a non-coding region of the GALT gene. It does not change the encoded amino acid sequence of the GALT protein. This variant is present in population databases (rs368046870, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with GALT-related conditions. ClinVar contains an entry for this variant (Variation ID: 929184). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at