chr15-54013815-C-G
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_001080534.3(UNC13C):c.912C>G(p.Asp304Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00631 in 1,612,176 control chromosomes in the GnomAD database, including 71 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001080534.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UNC13C | NM_001080534.3 | c.912C>G | p.Asp304Glu | missense_variant | 2/33 | ENST00000260323.16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UNC13C | ENST00000260323.16 | c.912C>G | p.Asp304Glu | missense_variant | 2/33 | 5 | NM_001080534.3 | A1 | |
UNC13C | ENST00000647821.1 | c.912C>G | p.Asp304Glu | missense_variant | 2/32 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.00452 AC: 687AN: 152090Hom.: 5 Cov.: 32
GnomAD3 exomes AF: 0.00622 AC: 1538AN: 247140Hom.: 21 AF XY: 0.00660 AC XY: 886AN XY: 134184
GnomAD4 exome AF: 0.00650 AC: 9486AN: 1459968Hom.: 66 Cov.: 31 AF XY: 0.00671 AC XY: 4877AN XY: 726364
GnomAD4 genome ? AF: 0.00451 AC: 686AN: 152208Hom.: 5 Cov.: 32 AF XY: 0.00431 AC XY: 321AN XY: 74436
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Nov 01, 2023 | UNC13C: BS2 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at