22-20859126-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004782.4(SNAP29):c.16A>G(p.Lys6Glu) variant causes a missense change. The variant allele was found at a frequency of 0.00000206 in 1,455,258 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 (★). Synonymous variant affecting the same amino acid position (i.e. K6K) has been classified as Benign.
Frequency
Consequence
NM_004782.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SNAP29 | NM_004782.4 | c.16A>G | p.Lys6Glu | missense_variant | 1/5 | ENST00000215730.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SNAP29 | ENST00000215730.12 | c.16A>G | p.Lys6Glu | missense_variant | 1/5 | 1 | NM_004782.4 | P1 | |
PI4KA | ENST00000449120.1 | c.-22T>C | 5_prime_UTR_variant | 1/4 | 4 | ||||
SNAP29 | ENST00000490458.1 | n.46A>G | non_coding_transcript_exon_variant | 1/2 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1455258Hom.: 0 Cov.: 31 AF XY: 0.00000276 AC XY: 2AN XY: 723498
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Mayo Clinic Laboratories, Mayo Clinic | Mar 23, 2020 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at