chr8-41537275-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_032336.3(GINS4):āc.279G>Cā(p.Leu93Phe) variant causes a missense change. The variant allele was found at a frequency of 0.0000031 in 1,612,680 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_032336.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GINS4 | NM_032336.3 | c.279G>C | p.Leu93Phe | missense_variant | Exon 4 of 8 | ENST00000276533.4 | NP_115712.1 | |
GINS4 | XM_005273659.5 | c.279G>C | p.Leu93Phe | missense_variant | Exon 4 of 8 | XP_005273716.1 | ||
GPAT4-AS1 | NR_125824.1 | n.99C>G | non_coding_transcript_exon_variant | Exon 2 of 3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152224Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000799 AC: 2AN: 250286Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135338
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460456Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 726576
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152224Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74374
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.279G>C (p.L93F) alteration is located in exon 4 (coding exon 3) of the GINS4 gene. This alteration results from a G to C substitution at nucleotide position 279, causing the leucine (L) at amino acid position 93 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at