NM_006589.3:c.1966A>G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006589.3(ENTREP3):c.1966A>G(p.Ser656Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000453 in 1,478,492 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006589.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152174Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000203 AC: 2AN: 98342Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 49360
GnomAD4 exome AF: 0.0000377 AC: 50AN: 1326200Hom.: 0 Cov.: 32 AF XY: 0.0000294 AC XY: 19AN XY: 646446
GnomAD4 genome AF: 0.000112 AC: 17AN: 152292Hom.: 0 Cov.: 32 AF XY: 0.0000806 AC XY: 6AN XY: 74462
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1966A>G (p.S656G) alteration is located in exon 12 (coding exon 12) of the FAM189B gene. This alteration results from a A to G substitution at nucleotide position 1966, causing the serine (S) at amino acid position 656 to be replaced by a glycine (G). 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