chr19-55788918-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001394894.2(NLRP11):c.2744C>T(p.Thr915Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000263 in 152,070 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as not provided (no stars).
Frequency
Consequence
NM_001394894.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NLRP11 | NM_001394894.2 | c.2744C>T | p.Thr915Ile | missense_variant | 9/10 | ENST00000589093.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NLRP11 | ENST00000589093.6 | c.2744C>T | p.Thr915Ile | missense_variant | 9/10 | 1 | NM_001394894.2 | P1 | |
NLRP11 | ENST00000592953.5 | c.2447C>T | p.Thr816Ile | missense_variant | 8/9 | 1 | |||
NLRP11 | ENST00000590409.5 | c.*558C>T | 3_prime_UTR_variant, NMD_transcript_variant | 11/12 | 1 | ||||
NLRP11 | ENST00000589824.6 | c.2582C>T | p.Thr861Ile | missense_variant | 7/8 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 151952Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251462Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135898
GnomAD4 exome Cov.: 33
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 152070Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74316
ClinVar
Submissions by phenotype
not provided Other:1
not provided, no classification provided | literature only | Human Evolutionary Genetics, Institut Pasteur | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at