chr19-38385436-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_152657.4(GGN):c.1826G>A(p.Arg609His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000142 in 1,614,084 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_152657.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GGN | NM_152657.4 | c.1826G>A | p.Arg609His | missense_variant | Exon 3 of 4 | ENST00000334928.11 | NP_689870.3 | |
GGN | XM_005258619.5 | c.1826G>A | p.Arg609His | missense_variant | Exon 3 of 4 | XP_005258676.1 | ||
GGN | XM_017026451.2 | c.1826G>A | p.Arg609His | missense_variant | Exon 2 of 3 | XP_016881940.1 | ||
GGN | XM_011526603.3 | c.1577G>A | p.Arg526His | missense_variant | Exon 3 of 4 | XP_011524905.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152228Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 250874Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135698
GnomAD4 exome AF: 0.00000821 AC: 12AN: 1461738Hom.: 0 Cov.: 33 AF XY: 0.00000275 AC XY: 2AN XY: 727166
GnomAD4 genome AF: 0.0000722 AC: 11AN: 152346Hom.: 0 Cov.: 33 AF XY: 0.0000671 AC XY: 5AN XY: 74494
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1826G>A (p.R609H) alteration is located in exon 3 (coding exon 1) of the GGN gene. This alteration results from a G to A substitution at nucleotide position 1826, causing the arginine (R) at amino acid position 609 to be replaced by a histidine (H). 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