rs12461110
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001394894.2(NLRP11):c.1313C>T(p.Pro438Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.336 in 1,613,138 control chromosomes in the GnomAD database, including 94,623 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001394894.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NLRP11 | NM_001394894.2 | c.1313C>T | p.Pro438Leu | missense_variant | 3/10 | ENST00000589093.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NLRP11 | ENST00000589093.6 | c.1313C>T | p.Pro438Leu | missense_variant | 3/10 | 1 | NM_001394894.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.268 AC: 40631AN: 151790Hom.: 6490 Cov.: 32
GnomAD3 exomes AF: 0.321 AC: 80523AN: 251080Hom.: 13618 AF XY: 0.323 AC XY: 43819AN XY: 135726
GnomAD4 exome AF: 0.343 AC: 500856AN: 1461228Hom.: 88133 Cov.: 38 AF XY: 0.342 AC XY: 248540AN XY: 726888
GnomAD4 genome ? AF: 0.268 AC: 40640AN: 151910Hom.: 6490 Cov.: 32 AF XY: 0.267 AC XY: 19832AN XY: 74252
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at