11-279352-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001276700.2(NLRP6):c.55C>G(p.Arg19Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000175 in 1,142,508 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001276700.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NLRP6 | NM_001276700.2 | c.55C>G | p.Arg19Gly | missense_variant | Exon 2 of 8 | ENST00000534750.6 | NP_001263629.1 | |
NLRP6 | NM_138329.2 | c.55C>G | p.Arg19Gly | missense_variant | Exon 2 of 8 | NP_612202.2 | ||
NLRP6 | XR_930848.2 | n.218C>G | non_coding_transcript_exon_variant | Exon 2 of 6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NLRP6 | ENST00000534750.6 | c.55C>G | p.Arg19Gly | missense_variant | Exon 2 of 8 | 2 | NM_001276700.2 | ENSP00000433617.1 | ||
NLRP6 | ENST00000312165.5 | c.55C>G | p.Arg19Gly | missense_variant | Exon 2 of 8 | 1 | ENSP00000309767.4 | |||
NLRP6 | ENST00000527946.1 | n.294C>G | non_coding_transcript_exon_variant | Exon 1 of 2 | 4 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000175 AC: 2AN: 1142508Hom.: 0 Cov.: 35 AF XY: 0.00000183 AC XY: 1AN XY: 547628
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.55C>G (p.R19G) alteration is located in exon 2 (coding exon 2) of the NLRP6 gene. This alteration results from a C to G substitution at nucleotide position 55, causing the arginine (R) at amino acid position 19 to be replaced by a glycine (G). 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