17-81922673-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_002359.4(MAFG):c.421G>A(p.Val141Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000113 in 1,506,804 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002359.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MAFG | NM_002359.4 | c.421G>A | p.Val141Ile | missense_variant | Exon 3 of 3 | ENST00000357736.9 | NP_002350.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MAFG | ENST00000357736.9 | c.421G>A | p.Val141Ile | missense_variant | Exon 3 of 3 | 1 | NM_002359.4 | ENSP00000350369.4 | ||
MAFG | ENST00000392366.7 | c.421G>A | p.Val141Ile | missense_variant | Exon 3 of 3 | 1 | ENSP00000376173.3 | |||
MAFG | ENST00000574686.1 | c.*125G>A | downstream_gene_variant | 5 | ENSP00000459634.1 | |||||
ENSG00000264769 | ENST00000580897.1 | n.-226C>T | upstream_gene_variant | 4 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152178Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000214 AC: 3AN: 140494Hom.: 0 AF XY: 0.0000398 AC XY: 3AN XY: 75368
GnomAD4 exome AF: 0.0000103 AC: 14AN: 1354626Hom.: 0 Cov.: 32 AF XY: 0.00000902 AC XY: 6AN XY: 664888
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152178Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74338
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.421G>A (p.V141I) alteration is located in exon 3 (coding exon 2) of the MAFG gene. This alteration results from a G to A substitution at nucleotide position 421, causing the valine (V) at amino acid position 141 to be replaced by an isoleucine (I). 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