rs575077063
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_000154.2(GALK1):c.479C>T(p.Ser160Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000465 in 1,611,666 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. S160S) has been classified as Likely benign.
Frequency
Consequence
NM_000154.2 missense
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GALK1 | NM_000154.2 | c.479C>T | p.Ser160Leu | missense_variant | 4/8 | ENST00000588479.6 | |
GALK1 | NM_001381985.1 | c.479C>T | p.Ser160Leu | missense_variant | 4/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GALK1 | ENST00000588479.6 | c.479C>T | p.Ser160Leu | missense_variant | 4/8 | 1 | NM_000154.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 152184Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000109 AC: 27AN: 248802Hom.: 1 AF XY: 0.000156 AC XY: 21AN XY: 134898
GnomAD4 exome AF: 0.0000487 AC: 71AN: 1459364Hom.: 3 Cov.: 50 AF XY: 0.0000716 AC XY: 52AN XY: 726072
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 152302Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74468
ClinVar
Submissions by phenotype
Deficiency of galactokinase Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Counsyl | Apr 02, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at