11-7038734-G-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_176822.4(NLRP14):c.148G>T(p.Val50Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000254 in 1,614,132 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_176822.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NLRP14 | NM_176822.4 | c.148G>T | p.Val50Leu | missense_variant | 2/12 | ENST00000299481.5 | NP_789792.1 | |
NLRP14 | XM_011520044.2 | c.148G>T | p.Val50Leu | missense_variant | 2/11 | XP_011518346.1 | ||
NLRP14 | XM_047426867.1 | c.148G>T | p.Val50Leu | missense_variant | 2/11 | XP_047282823.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NLRP14 | ENST00000299481.5 | c.148G>T | p.Val50Leu | missense_variant | 2/12 | 5 | NM_176822.4 | ENSP00000299481 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152176Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 251024Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135740
GnomAD4 exome AF: 0.0000253 AC: 37AN: 1461838Hom.: 0 Cov.: 36 AF XY: 0.0000303 AC XY: 22AN XY: 727234
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152294Hom.: 0 Cov.: 32 AF XY: 0.0000537 AC XY: 4AN XY: 74454
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 12, 2021 | The c.148G>T (p.V50L) alteration is located in exon 2 (coding exon 1) of the NLRP14 gene. This alteration results from a G to T substitution at nucleotide position 148, causing the valine (V) at amino acid position 50 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at