chr19-55792440-A-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001394894.2(NLRP11):c.2374T>G(p.Cys792Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00474 in 1,614,138 control chromosomes in the GnomAD database, including 316 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001394894.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NLRP11 | NM_001394894.2 | c.2374T>G | p.Cys792Gly | missense_variant | 7/10 | ENST00000589093.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NLRP11 | ENST00000589093.6 | c.2374T>G | p.Cys792Gly | missense_variant | 7/10 | 1 | NM_001394894.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0246 AC: 3742AN: 152212Hom.: 155 Cov.: 32
GnomAD3 exomes AF: 0.00700 AC: 1759AN: 251446Hom.: 73 AF XY: 0.00486 AC XY: 661AN XY: 135890
GnomAD4 exome AF: 0.00266 AC: 3895AN: 1461808Hom.: 160 Cov.: 31 AF XY: 0.00226 AC XY: 1647AN XY: 727196
GnomAD4 genome ? AF: 0.0246 AC: 3754AN: 152330Hom.: 156 Cov.: 32 AF XY: 0.0234 AC XY: 1741AN XY: 74502
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jul 18, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at