chr12-4745542-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_017417.2(GALNT8):āc.974A>Gā(p.Asp325Gly) variant causes a missense change. The variant allele was found at a frequency of 0.0000118 in 1,613,782 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D325V) has been classified as Uncertain significance.
Frequency
Consequence
NM_017417.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GALNT8 | NM_017417.2 | c.974A>G | p.Asp325Gly | missense_variant | 5/11 | ENST00000252318.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GALNT8 | ENST00000252318.7 | c.974A>G | p.Asp325Gly | missense_variant | 5/11 | 1 | NM_017417.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152164Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251310Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135828
GnomAD4 exome AF: 0.0000123 AC: 18AN: 1461618Hom.: 0 Cov.: 32 AF XY: 0.0000124 AC XY: 9AN XY: 727136
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152164Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74312
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 22, 2023 | The c.974A>G (p.D325G) alteration is located in exon 5 (coding exon 5) of the GALNT8 gene. This alteration results from a A to G substitution at nucleotide position 974, causing the aspartic acid (D) at amino acid position 325 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