chr3-101853528-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_031419.4(NFKBIZ):c.1002T>G(p.Phe334Leu) 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. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_031419.4 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 |
---|---|---|---|---|---|---|---|
NFKBIZ | NM_031419.4 | c.1002T>G | p.Phe334Leu | missense_variant | 5/12 | ENST00000326172.9 | |
NFKBIZ | NM_001005474.3 | c.702T>G | p.Phe234Leu | missense_variant | 6/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NFKBIZ | ENST00000326172.9 | c.1002T>G | p.Phe334Leu | missense_variant | 5/12 | 1 | NM_031419.4 | P4 | |
NFKBIZ | ENST00000394054.6 | c.702T>G | p.Phe234Leu | missense_variant | 6/13 | 1 | A2 | ||
NFKBIZ | ENST00000483180.5 | c.702T>G | p.Phe234Leu | missense_variant | 5/11 | 5 | |||
NFKBIZ | ENST00000326151.9 | c.709-73T>G | intron_variant | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 33
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 03, 2023 | The c.1002T>G (p.F334L) alteration is located in exon 5 (coding exon 5) of the NFKBIZ gene. This alteration results from a T to G substitution at nucleotide position 1002, causing the phenylalanine (F) at amino acid position 334 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
Publications
No publications associated with this variant yet.