1-155239569-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000157.4(GBA1):c.454+47G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.329 in 1,608,550 control chromosomes in the GnomAD database, including 95,559 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_000157.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GBA1 | NM_000157.4 | c.454+47G>A | intron_variant | Intron 4 of 10 | ENST00000368373.8 | NP_000148.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.408 AC: 61998AN: 151820Hom.: 14346 Cov.: 31
GnomAD3 exomes AF: 0.367 AC: 90926AN: 247432Hom.: 18697 AF XY: 0.357 AC XY: 47844AN XY: 134170
GnomAD4 exome AF: 0.321 AC: 467210AN: 1456612Hom.: 81167 Cov.: 32 AF XY: 0.319 AC XY: 231011AN XY: 724818
GnomAD4 genome AF: 0.409 AC: 62091AN: 151938Hom.: 14392 Cov.: 31 AF XY: 0.406 AC XY: 30186AN XY: 74266
ClinVar
Submissions by phenotype
not specified Benign:2
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This variant is classified as Benign based on local population frequency. This variant was detected in 54% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy, Progressive Myoclonus Epilepsy and Abnormal Movements and Neurodegeneration with brain iron accumulation. Number of patients: 50. Only high quality variants are reported. -
Gaucher disease type I Benign:1
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Gaucher disease perinatal lethal Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at