22-38214839-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_012323.4(MAFF):āc.456C>Gā(p.His152Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000334 in 1,497,998 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_012323.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MAFF | NM_012323.4 | c.456C>G | p.His152Gln | missense_variant | 3/3 | ENST00000338483.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MAFF | ENST00000338483.7 | c.456C>G | p.His152Gln | missense_variant | 3/3 | 1 | NM_012323.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000527 AC: 8AN: 151708Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000313 AC: 3AN: 95958Hom.: 0 AF XY: 0.0000369 AC XY: 2AN XY: 54250
GnomAD4 exome AF: 0.0000312 AC: 42AN: 1346290Hom.: 0 Cov.: 31 AF XY: 0.0000422 AC XY: 28AN XY: 664068
GnomAD4 genome AF: 0.0000527 AC: 8AN: 151708Hom.: 0 Cov.: 32 AF XY: 0.0000405 AC XY: 3AN XY: 74108
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 19, 2023 | The c.456C>G (p.H152Q) alteration is located in exon 3 (coding exon 2) of the MAFF gene. This alteration results from a C to G substitution at nucleotide position 456, causing the histidine (H) at amino acid position 152 to be replaced by a glutamine (Q). 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