2-55243018-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002453.3(MTIF2):c.1627G>C(p.Glu543Gln) variant causes a missense change. The variant allele was found at a frequency of 0.000000686 in 1,457,306 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002453.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MTIF2 | ENST00000263629.9 | c.1627G>C | p.Glu543Gln | missense_variant | Exon 13 of 16 | 1 | NM_002453.3 | ENSP00000263629.4 | ||
MTIF2 | ENST00000394600.7 | c.1627G>C | p.Glu543Gln | missense_variant | Exon 10 of 13 | 2 | ENSP00000378099.3 | |||
MTIF2 | ENST00000403721.5 | c.1627G>C | p.Glu543Gln | missense_variant | Exon 12 of 15 | 5 | ENSP00000384481.1 | |||
MTIF2 | ENST00000418823.4 | c.658G>C | p.Glu220Gln | missense_variant | Exon 5 of 6 | 5 | ENSP00000403492.4 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1457306Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 725246
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1627G>C (p.E543Q) alteration is located in exon 14 (coding exon 10) of the MTIF2 gene. This alteration results from a G to C substitution at nucleotide position 1627, causing the glutamic acid (E) at amino acid position 543 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
Publications
No publications associated with this variant yet.