rs181294188
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_006164.5(NFE2L2):c.1346G>A(p.Arg449His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000142 in 1,614,178 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R449C) has been classified as Uncertain significance.
Frequency
Consequence
NM_006164.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NFE2L2 | NM_006164.5 | c.1346G>A | p.Arg449His | missense_variant | 5/5 | ENST00000397062.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NFE2L2 | ENST00000397062.8 | c.1346G>A | p.Arg449His | missense_variant | 5/5 | 1 | NM_006164.5 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.000210 AC: 32AN: 152174Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000453 AC: 113AN: 249364Hom.: 0 AF XY: 0.000399 AC XY: 54AN XY: 135288
GnomAD4 exome AF: 0.000135 AC: 198AN: 1461886Hom.: 0 Cov.: 31 AF XY: 0.000144 AC XY: 105AN XY: 727242
GnomAD4 genome ? AF: 0.000210 AC: 32AN: 152292Hom.: 0 Cov.: 33 AF XY: 0.000242 AC XY: 18AN XY: 74458
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 09, 2023 | - - |
not specified Other:1
not provided, no classification provided | reference population | ITMI | Sep 19, 2013 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at