rs379327
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_134444.5(NLRP4):c.1407C>G(p.His469Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_134444.5 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 |
---|---|---|---|---|---|---|---|
NLRP4 | NM_134444.5 | c.1407C>G | p.His469Gln | missense_variant | 3/10 | ENST00000301295.11 | |
NLRP4 | XM_017026344.1 | c.1407C>G | p.His469Gln | missense_variant | 2/8 | ||
NLRP4 | XM_017026345.1 | c.1407C>G | p.His469Gln | missense_variant | 2/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NLRP4 | ENST00000301295.11 | c.1407C>G | p.His469Gln | missense_variant | 3/10 | 1 | NM_134444.5 | P1 | |
NLRP4 | ENST00000589437.1 | c.105C>G | p.His35Gln | missense_variant | 1/7 | 1 | |||
NLRP4 | ENST00000587891.5 | c.1182C>G | p.His394Gln | missense_variant | 1/8 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 35
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at