9-35295719-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001371189.2(UNC13B):c.550G>A(p.Val184Ile) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000188 in 1,614,036 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 (★).
Frequency
Consequence
NM_001371189.2 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UNC13B | NM_001371189.2 | c.550G>A | p.Val184Ile | missense_variant | Exon 8 of 40 | ENST00000635942.2 | NP_001358118.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UNC13B | ENST00000635942.2 | c.550G>A | p.Val184Ile | missense_variant | Exon 8 of 40 | 5 | NM_001371189.2 | ENSP00000490228.1 |
Frequencies
GnomAD3 genomes AF: 0.000158 AC: 24AN: 152032Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000155 AC: 39AN: 251400Hom.: 0 AF XY: 0.000118 AC XY: 16AN XY: 135876
GnomAD4 exome AF: 0.000191 AC: 279AN: 1461886Hom.: 0 Cov.: 31 AF XY: 0.000190 AC XY: 138AN XY: 727246
GnomAD4 genome AF: 0.000158 AC: 24AN: 152150Hom.: 0 Cov.: 32 AF XY: 0.000188 AC XY: 14AN XY: 74364
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.550G>A (p.V184I) alteration is located in exon 8 (coding exon 8) of the UNC13B gene. This alteration results from a G to A substitution at nucleotide position 550, causing the valine (V) at amino acid position 184 to be replaced by an isoleucine (I). 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