rs764753476
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_001243133.2(NLRP3):c.2343G>A(p.Ser781=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000539 in 1,614,028 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Synonymous variant affecting the same amino acid position (i.e. S781S) has been classified as Likely benign.
Frequency
Consequence
NM_001243133.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NLRP3 | NM_001243133.2 | c.2343G>A | p.Ser781= | synonymous_variant | 6/10 | ENST00000336119.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NLRP3 | ENST00000336119.8 | c.2343G>A | p.Ser781= | synonymous_variant | 6/10 | 1 | NM_001243133.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000394 AC: 6AN: 152160Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.000219 AC: 55AN: 251200Hom.: 1 AF XY: 0.000206 AC XY: 28AN XY: 135786
GnomAD4 exome AF: 0.0000554 AC: 81AN: 1461868Hom.: 2 Cov.: 37 AF XY: 0.0000715 AC XY: 52AN XY: 727236
GnomAD4 genome ? AF: 0.0000394 AC: 6AN: 152160Hom.: 0 Cov.: 34 AF XY: 0.0000538 AC XY: 4AN XY: 74336
ClinVar
Submissions by phenotype
Cryopyrin associated periodic syndrome Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 07, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at