NM_001243133.2:c.726G>T
Variant summary
Our verdict is Benign. The variant received -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS2
The NM_001243133.2(NLRP3):c.726G>T(p.Ala242Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000204 in 1,613,796 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Synonymous variant affecting the same amino acid position (i.e. A242A) has been classified as Benign.
Frequency
Consequence
NM_001243133.2 synonymous
Scores
Clinical Significance
Conservation
Publications
- CINCA syndromeInheritance: AD Classification: DEFINITIVE, STRONG, SUPPORTIVE Submitted by: G2P, Orphanet, Genomics England PanelApp, Labcorp Genetics (formerly Invitae)
- cryopyrin-associated periodic syndromeInheritance: AD Classification: DEFINITIVE Submitted by: Illumina
- familial cold autoinflammatory syndromeInheritance: AD Classification: DEFINITIVE, SUPPORTIVE Submitted by: G2P, Orphanet
- familial cold autoinflammatory syndrome 1Inheritance: AD Classification: STRONG Submitted by: G2P
- Muckle-Wells syndromeInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
- keratitis fugax hereditariaInheritance: AD Classification: LIMITED Submitted by: Ambry Genetics
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ACMG classification
Our verdict: Benign. The variant received -17 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NLRP3 | NM_001243133.2 | c.726G>T | p.Ala242Ala | synonymous_variant | Exon 4 of 10 | ENST00000336119.8 | NP_001230062.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NLRP3 | ENST00000336119.8 | c.726G>T | p.Ala242Ala | synonymous_variant | Exon 4 of 10 | 1 | NM_001243133.2 | ENSP00000337383.4 |
Frequencies
GnomAD3 genomes AF: 0.000125 AC: 19AN: 151816Hom.: 0 Cov.: 30 show subpopulations
GnomAD2 exomes AF: 0.0000478 AC: 12AN: 251266 AF XY: 0.0000368 show subpopulations
GnomAD4 exome AF: 0.00000958 AC: 14AN: 1461862Hom.: 0 Cov.: 60 AF XY: 0.00000963 AC XY: 7AN XY: 727228 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.000125 AC: 19AN: 151934Hom.: 0 Cov.: 30 AF XY: 0.0000943 AC XY: 7AN XY: 74240 show subpopulations
Age Distribution
ClinVar
Submissions by phenotype
Cryopyrin associated periodic syndrome Benign:1
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Familial amyloid nephropathy with urticaria AND deafness;C0409818:Chronic infantile neurological, cutaneous and articular syndrome;C1835697:Keratitis fugax hereditaria;C4521680:Hearing loss, autosomal dominant 34, with or without inflammation;C4551895:Familial cold autoinflammatory syndrome 1 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at