rs41274865
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000155.4(GALT):c.378-27G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0599 in 1,614,114 control chromosomes in the GnomAD database, including 3,193 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). There are indicators that this mutation may affect the branch point..
Frequency
Consequence
NM_000155.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0469 AC: 7137AN: 152136Hom.: 260 Cov.: 32
GnomAD3 exomes AF: 0.0543 AC: 13652AN: 251492Hom.: 439 AF XY: 0.0565 AC XY: 7675AN XY: 135922
GnomAD4 exome AF: 0.0613 AC: 89600AN: 1461860Hom.: 2932 Cov.: 33 AF XY: 0.0618 AC XY: 44978AN XY: 727232
GnomAD4 genome AF: 0.0469 AC: 7139AN: 152254Hom.: 261 Cov.: 32 AF XY: 0.0467 AC XY: 3475AN XY: 74432
ClinVar
Submissions by phenotype
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Benign:4Other:1
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not provided Benign:2
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not specified Benign:1
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Galactosemia Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at