8-41536413-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032336.3(GINS4):c.150T>G(p.Ile50Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000137 in 1,459,080 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032336.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GINS4 | NM_032336.3 | c.150T>G | p.Ile50Met | missense_variant | Exon 3 of 8 | ENST00000276533.4 | NP_115712.1 | |
GINS4 | XM_005273659.5 | c.150T>G | p.Ile50Met | missense_variant | Exon 3 of 8 | XP_005273716.1 | ||
GPAT4-AS1 | NR_125824.1 | n.303+658A>C | intron_variant | Intron 2 of 2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000438 AC: 11AN: 251378Hom.: 0 AF XY: 0.0000515 AC XY: 7AN XY: 135862
GnomAD4 exome AF: 0.0000137 AC: 20AN: 1459080Hom.: 0 Cov.: 29 AF XY: 0.0000151 AC XY: 11AN XY: 726090
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.150T>G (p.I50M) alteration is located in exon 3 (coding exon 2) of the GINS4 gene. This alteration results from a T to G substitution at nucleotide position 150, causing the isoleucine (I) at amino acid position 50 to be replaced by a methionine (M). 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