7-26152844-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004289.7(NFE2L3):c.346G>A(p.Val116Met) variant causes a missense change. The variant allele was found at a frequency of 0.000634 in 1,474,794 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004289.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000447 AC: 68AN: 152088Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000621 AC: 48AN: 77328Hom.: 0 AF XY: 0.000539 AC XY: 24AN XY: 44568
GnomAD4 exome AF: 0.000656 AC: 867AN: 1322598Hom.: 1 Cov.: 31 AF XY: 0.000641 AC XY: 418AN XY: 652188
GnomAD4 genome AF: 0.000447 AC: 68AN: 152196Hom.: 0 Cov.: 32 AF XY: 0.000484 AC XY: 36AN XY: 74432
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.346G>A (p.V116M) alteration is located in exon 1 (coding exon 1) of the NFE2L3 gene. This alteration results from a G to A substitution at nucleotide position 346, causing the valine (V) at amino acid position 116 to be replaced by a methionine (M). 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