chr6-31558196-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_005007.4(NFKBIL1):c.731G>A(p.Arg244Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000161 in 1,605,660 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005007.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NFKBIL1 | NM_005007.4 | c.731G>A | p.Arg244Gln | missense_variant | 4/4 | ENST00000376148.9 | NP_004998.3 | |
NFKBIL1 | NM_001144961.2 | c.686G>A | p.Arg229Gln | missense_variant | 4/4 | NP_001138433.1 | ||
NFKBIL1 | NM_001144962.2 | c.662G>A | p.Arg221Gln | missense_variant | 4/4 | NP_001138434.1 | ||
NFKBIL1 | NM_001144963.2 | c.617G>A | p.Arg206Gln | missense_variant | 4/4 | NP_001138435.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NFKBIL1 | ENST00000376148.9 | c.731G>A | p.Arg244Gln | missense_variant | 4/4 | 1 | NM_005007.4 | ENSP00000365318 | P4 | |
NFKBIL1 | ENST00000376145.8 | c.686G>A | p.Arg229Gln | missense_variant | 4/4 | 1 | ENSP00000365315 | |||
NFKBIL1 | ENST00000376146.8 | c.662G>A | p.Arg221Gln | missense_variant | 4/4 | 4 | ENSP00000365316 | A1 |
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152220Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000142 AC: 32AN: 225050Hom.: 0 AF XY: 0.000130 AC XY: 16AN XY: 123406
GnomAD4 exome AF: 0.000170 AC: 247AN: 1453322Hom.: 0 Cov.: 35 AF XY: 0.000156 AC XY: 113AN XY: 722246
GnomAD4 genome AF: 0.0000722 AC: 11AN: 152338Hom.: 0 Cov.: 31 AF XY: 0.000107 AC XY: 8AN XY: 74492
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 27, 2022 | The c.731G>A (p.R244Q) alteration is located in exon 4 (coding exon 4) of the NFKBIL1 gene. This alteration results from a G to A substitution at nucleotide position 731, causing the arginine (R) at amino acid position 244 to be replaced by a glutamine (Q). 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