22-38214753-G-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_012323.4(MAFF):c.370G>A(p.Ala124Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000594 in 1,403,970 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_012323.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000204 AC: 31AN: 151650Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000405 AC: 10AN: 24678Hom.: 0 AF XY: 0.000644 AC XY: 10AN XY: 15526
GnomAD4 exome AF: 0.000641 AC: 803AN: 1252320Hom.: 2 Cov.: 31 AF XY: 0.000595 AC XY: 366AN XY: 615314
GnomAD4 genome AF: 0.000204 AC: 31AN: 151650Hom.: 0 Cov.: 32 AF XY: 0.000176 AC XY: 13AN XY: 74040
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.370G>A (p.A124T) alteration is located in exon 3 (coding exon 2) of the MAFF gene. This alteration results from a G to A substitution at nucleotide position 370, causing the alanine (A) at amino acid position 124 to be replaced by a threonine (T). 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