chr15-54013595-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001080534.3(UNC13C):c.692G>A(p.Ser231Asn) variant causes a missense change. The variant allele was found at a frequency of 0.00000753 in 1,461,370 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S231R) has been classified as Uncertain significance.
Frequency
Consequence
NM_001080534.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UNC13C | NM_001080534.3 | c.692G>A | p.Ser231Asn | missense_variant | 2/33 | ENST00000260323.16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UNC13C | ENST00000260323.16 | c.692G>A | p.Ser231Asn | missense_variant | 2/33 | 5 | NM_001080534.3 | A1 | |
UNC13C | ENST00000647821.1 | c.692G>A | p.Ser231Asn | missense_variant | 2/32 | P4 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000806 AC: 2AN: 248146Hom.: 0 AF XY: 0.0000149 AC XY: 2AN XY: 134600
GnomAD4 exome AF: 0.00000753 AC: 11AN: 1461370Hom.: 0 Cov.: 31 AF XY: 0.00000825 AC XY: 6AN XY: 726952
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 02, 2023 | The c.692G>A (p.S231N) alteration is located in exon 1 (coding exon 1) of the UNC13C gene. This alteration results from a G to A substitution at nucleotide position 692, causing the serine (S) at amino acid position 231 to be replaced by an asparagine (N). 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