22-38214762-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_012323.4(MAFF):c.379C>T(p.Pro127Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000471 in 1,421,798 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MAFF | NM_012323.4 | c.379C>T | p.Pro127Ser | missense_variant | 3/3 | ENST00000338483.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MAFF | ENST00000338483.7 | c.379C>T | p.Pro127Ser | missense_variant | 3/3 | 1 | NM_012323.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000659 AC: 10AN: 151772Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000967 AC: 4AN: 41374Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 25042
GnomAD4 exome AF: 0.0000449 AC: 57AN: 1269918Hom.: 0 Cov.: 31 AF XY: 0.0000464 AC XY: 29AN XY: 625014
GnomAD4 genome AF: 0.0000658 AC: 10AN: 151880Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74232
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 11, 2024 | The c.379C>T (p.P127S) alteration is located in exon 3 (coding exon 2) of the MAFF gene. This alteration results from a C to T substitution at nucleotide position 379, causing the proline (P) at amino acid position 127 to be replaced by a serine (S). 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