chr1-22003041-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_005747.5(CELA3A):c.82C>A(p.Arg28Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000719 in 139,008 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. R28C) has been classified as Uncertain significance.
Frequency
Consequence
NM_005747.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CELA3A | ENST00000290122.8 | c.82C>A | p.Arg28Ser | missense_variant | Exon 2 of 8 | 1 | NM_005747.5 | ENSP00000290122.3 | ||
CELA3A | ENST00000374663.1 | n.97C>A | non_coding_transcript_exon_variant | Exon 2 of 4 | 2 | |||||
ENSG00000285959 | ENST00000650360.1 | n.522-2406C>A | intron_variant | Intron 3 of 8 |
Frequencies
GnomAD3 genomes AF: 0.00000719 AC: 1AN: 139008Hom.: 0 Cov.: 27
GnomAD4 exome Cov.: 31
GnomAD4 genome AF: 0.00000719 AC: 1AN: 139008Hom.: 0 Cov.: 27 AF XY: 0.00 AC XY: 0AN XY: 67734
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at