16-81362609-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_022041.4(GAN):c.1084G>C(p.Glu362Gln) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.000000783 in 1,277,350 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_022041.4 missense, splice_region
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 |
---|---|---|---|---|---|---|---|---|
GAN | NM_022041.4 | c.1084G>C | p.Glu362Gln | missense_variant, splice_region_variant | Exon 6 of 11 | ENST00000648994.2 | NP_071324.1 | |
GAN | NM_001377486.1 | c.445G>C | p.Glu149Gln | missense_variant, splice_region_variant | Exon 5 of 10 | NP_001364415.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 7.83e-7 AC: 1AN: 1277350Hom.: 0 Cov.: 20 AF XY: 0.00 AC XY: 0AN XY: 644528
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.1084G>C (p.E362Q) alteration is located in exon 6 (coding exon 6) of the GAN gene. This alteration results from a G to C substitution at nucleotide position 1084, causing the glutamic acid (E) at amino acid position 362 to be replaced by a glutamine (Q). 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
Publications
No publications associated with this variant yet.