rs1316347883
Variant summary
Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PM1PM2PM5PP3_Strong
The NM_004273.5(CHST3):c.904G>A(p.Asp302Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000286 in 1,398,752 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D302H) has been classified as Pathogenic.
Frequency
Consequence
NM_004273.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CHST3 | NM_004273.5 | c.904G>A | p.Asp302Asn | missense_variant | 3/3 | ENST00000373115.5 | |
CHST3 | XM_006718075.5 | c.904G>A | p.Asp302Asn | missense_variant | 3/3 | ||
CHST3 | XM_011540369.3 | c.904G>A | p.Asp302Asn | missense_variant | 3/3 | ||
CHST3 | XM_047426022.1 | c.904G>A | p.Asp302Asn | missense_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CHST3 | ENST00000373115.5 | c.904G>A | p.Asp302Asn | missense_variant | 3/3 | 1 | NM_004273.5 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000692 AC: 1AN: 144486Hom.: 0 AF XY: 0.0000128 AC XY: 1AN XY: 78220
GnomAD4 exome AF: 0.00000286 AC: 4AN: 1398752Hom.: 0 Cov.: 31 AF XY: 0.00000580 AC XY: 4AN XY: 690060
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at