chr9-35236573-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001371189.2(UNC13B):c.257G>A(p.Arg86His) variant causes a missense change. The variant allele was found at a frequency of 0.00136 in 1,613,952 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict 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. R86C) has been classified as Uncertain significance.
Frequency
Consequence
NM_001371189.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UNC13B | NM_001371189.2 | c.257G>A | p.Arg86His | missense_variant | 4/40 | ENST00000635942.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UNC13B | ENST00000635942.2 | c.257G>A | p.Arg86His | missense_variant | 4/40 | 5 | NM_001371189.2 |
Frequencies
GnomAD3 genomes ? AF: 0.000907 AC: 138AN: 152164Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000908 AC: 228AN: 251176Hom.: 0 AF XY: 0.000936 AC XY: 127AN XY: 135736
GnomAD4 exome AF: 0.00141 AC: 2061AN: 1461670Hom.: 0 Cov.: 30 AF XY: 0.00135 AC XY: 983AN XY: 727150
GnomAD4 genome ? AF: 0.000913 AC: 139AN: 152282Hom.: 0 Cov.: 32 AF XY: 0.000967 AC XY: 72AN XY: 74446
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 19, 2021 | The c.257G>A (p.R86H) alteration is located in exon 4 (coding exon 4) of the UNC13B gene. This alteration results from a G to A substitution at nucleotide position 257, causing the arginine (R) at amino acid position 86 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