chr15-54013986-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001080534.3(UNC13C):c.1083G>T(p.Gln361His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000616 in 1,461,546 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UNC13C | NM_001080534.3 | c.1083G>T | p.Gln361His | missense_variant | 2/33 | ENST00000260323.16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UNC13C | ENST00000260323.16 | c.1083G>T | p.Gln361His | missense_variant | 2/33 | 5 | NM_001080534.3 | A1 | |
UNC13C | ENST00000647821.1 | c.1083G>T | p.Gln361His | missense_variant | 2/32 | P4 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000804 AC: 2AN: 248784Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 134952
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1461546Hom.: 0 Cov.: 31 AF XY: 0.00000550 AC XY: 4AN XY: 727044
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 27, 2022 | The c.1083G>T (p.Q361H) alteration is located in exon 1 (coding exon 1) of the UNC13C gene. This alteration results from a G to T substitution at nucleotide position 1083, causing the glutamine (Q) at amino acid position 361 to be replaced by a histidine (H). 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