rs104895509
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001127255.2(NLRP7):c.251G>T(p.Cys84Phe) 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. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. C84Y) has been classified as Likely benign.
Frequency
Consequence
NM_001127255.2 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NLRP7 | NM_001127255.2 | c.251G>T | p.Cys84Phe | missense_variant | Exon 2 of 11 | NP_001120727.1 | ||
NLRP7 | NM_001405531.1 | c.251G>T | p.Cys84Phe | missense_variant | Exon 4 of 13 | NP_001392460.1 | ||
NLRP7 | NM_139176.4 | c.251G>T | p.Cys84Phe | missense_variant | Exon 2 of 11 | NP_631915.2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 34
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.