1-155248303-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_006589.3(ENTREP3):c.1580G>T(p.Gly527Val) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000144 in 1,607,444 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 2/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006589.3 missense, splice_region
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000697 AC: 106AN: 152168Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000202 AC: 50AN: 246918Hom.: 0 AF XY: 0.000142 AC XY: 19AN XY: 133462
GnomAD4 exome AF: 0.0000873 AC: 127AN: 1455158Hom.: 0 Cov.: 33 AF XY: 0.0000692 AC XY: 50AN XY: 722892
GnomAD4 genome AF: 0.000689 AC: 105AN: 152286Hom.: 0 Cov.: 32 AF XY: 0.000524 AC XY: 39AN XY: 74472
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1580G>T (p.G527V) alteration is located in exon 11 (coding exon 11) of the FAM189B gene. This alteration results from a G to T substitution at nucleotide position 1580, causing the glycine (G) at amino acid position 527 to be replaced by a valine (V). 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