rs1171309189
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005007.4(NFKBIL1):c.37G>A(p.Ala13Thr) variant causes a missense change. The variant allele was found at a frequency of 0.00000124 in 1,612,074 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts 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. A13P) has been classified as Uncertain significance.
Frequency
Consequence
NM_005007.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NFKBIL1 | NM_005007.4 | c.37G>A | p.Ala13Thr | missense_variant | Exon 1 of 4 | ENST00000376148.9 | NP_004998.3 | |
NFKBIL1 | NM_001144961.2 | c.37G>A | p.Ala13Thr | missense_variant | Exon 1 of 4 | NP_001138433.1 | ||
NFKBIL1 | NM_001144962.2 | c.-12-432G>A | intron_variant | Intron 1 of 3 | NP_001138434.1 | |||
NFKBIL1 | NM_001144963.2 | c.-12-432G>A | intron_variant | Intron 1 of 3 | NP_001138435.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152122Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000408 AC: 1AN: 245174Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 133758
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459952Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 726336
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152122Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74314
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at