19-17606104-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP2PP3
The NM_001080421.3(UNC13A):āc.5062A>Gā(p.Lys1688Glu) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Synonymous variant affecting the same amino acid position (i.e. K1688K) has been classified as Likely benign.
Frequency
Consequence
NM_001080421.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UNC13A | NM_001080421.3 | c.5062A>G | p.Lys1688Glu | missense_variant | 44/44 | ENST00000519716.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UNC13A | ENST00000519716.7 | c.5062A>G | p.Lys1688Glu | missense_variant | 44/44 | 5 | NM_001080421.3 | A2 | |
UNC13A | ENST00000551649.5 | c.5119A>G | p.Lys1707Glu | missense_variant | 45/45 | 5 | P3 | ||
UNC13A | ENST00000552293.5 | c.5044A>G | p.Lys1682Glu | missense_variant | 42/42 | 5 | A2 | ||
UNC13A | ENST00000550896.1 | c.4981A>G | p.Lys1661Glu | missense_variant | 40/40 | 5 | A2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1443890Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 717772
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
UNC13A-related disorder Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Apr 27, 2023 | The UNC13A c.5062A>G variant is predicted to result in the amino acid substitution p.Lys1688Glu. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.