5-180992923-C-G
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2
The NM_197975.3(BTNL3):c.160C>G(p.Arg54Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000342 in 1,463,046 control chromosomes in the GnomAD database, including 1 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R54P) has been classified as Uncertain significance.
Frequency
Consequence
NM_197975.3 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000147 AC: 2AN: 136098Hom.: 0 Cov.: 23 show subpopulations
GnomAD2 exomes AF: 0.00000436 AC: 1AN: 229436 AF XY: 0.00 show subpopulations
GnomAD4 exome AF: 0.00000226 AC: 3AN: 1326948Hom.: 1 Cov.: 31 AF XY: 0.00000302 AC XY: 2AN XY: 661614 show subpopulations
GnomAD4 genome AF: 0.0000147 AC: 2AN: 136098Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 66136 show subpopulations ⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5.
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at