chr12-49598793-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032130.3(FAM186B):c.2326C>T(p.Arg776*) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000223 in 1,611,824 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_032130.3 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FAM186B | NM_032130.3 | c.2326C>T | p.Arg776* | stop_gained | Exon 5 of 7 | ENST00000257894.2 | NP_115506.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000265 AC: 4AN: 150924Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000482 AC: 12AN: 249212Hom.: 0 AF XY: 0.0000519 AC XY: 7AN XY: 134898
GnomAD4 exome AF: 0.0000219 AC: 32AN: 1460900Hom.: 0 Cov.: 31 AF XY: 0.0000165 AC XY: 12AN XY: 726796
GnomAD4 genome AF: 0.0000265 AC: 4AN: 150924Hom.: 0 Cov.: 31 AF XY: 0.0000136 AC XY: 1AN XY: 73598
ClinVar
Submissions by phenotype
not provided Uncertain:1
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with FAM186B-related conditions. This variant is present in population databases (rs765632091, gnomAD 0.03%). This sequence change creates a premature translational stop signal (p.Arg776*) in the FAM186B gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in FAM186B cause disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at