chr6-44265479-G-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The ENST00000275015.9(NFKBIE):āc.285C>Gā(p.His95Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0388 in 1,527,418 control chromosomes in the GnomAD database, including 1,345 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 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 nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
ENST00000275015.9 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NFKBIE | NM_004556.3 | c.-133C>G | 5_prime_UTR_variant | 1/6 | ENST00000619360.6 | NP_004547.3 | ||
POLR1C | NM_001318876.2 | c.946-176411G>C | intron_variant | NP_001305805.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NFKBIE | ENST00000275015.9 | c.285C>G | p.His95Gln | missense_variant | 1/6 | 1 | ENSP00000275015.3 | |||
NFKBIE | ENST00000619360.6 | c.-133C>G | 5_prime_UTR_variant | 1/6 | 1 | NM_004556.3 | ENSP00000480216.1 | |||
NFKBIE | ENST00000477930.2 | n.-133C>G | non_coding_transcript_exon_variant | 1/3 | 3 | ENSP00000454778.2 | ||||
NFKBIE | ENST00000477930.2 | n.-133C>G | 5_prime_UTR_variant | 1/3 | 3 | ENSP00000454778.2 |
Frequencies
GnomAD3 genomes AF: 0.0294 AC: 4472AN: 152132Hom.: 88 Cov.: 33
GnomAD3 exomes AF: 0.0314 AC: 3799AN: 121138Hom.: 84 AF XY: 0.0342 AC XY: 2293AN XY: 66990
GnomAD4 exome AF: 0.0399 AC: 54851AN: 1375178Hom.: 1257 Cov.: 33 AF XY: 0.0402 AC XY: 27279AN XY: 678164
GnomAD4 genome AF: 0.0294 AC: 4471AN: 152240Hom.: 88 Cov.: 33 AF XY: 0.0297 AC XY: 2212AN XY: 74436
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at