NM_006980.5:c.1057G>T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_006980.5(MTERF1):c.1057G>T(p.Asp353Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.0000273 in 1,613,988 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006980.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MTERF1 | ENST00000351870.8 | c.1057G>T | p.Asp353Tyr | missense_variant | Exon 3 of 3 | 1 | NM_006980.5 | ENSP00000248643.3 | ||
MTERF1 | ENST00000419292.1 | c.997G>T | p.Asp333Tyr | missense_variant | Exon 2 of 2 | 1 | ENSP00000414116.1 | |||
MTERF1 | ENST00000406735.6 | c.997G>T | p.Asp333Tyr | missense_variant | Exon 4 of 4 | 2 | ENSP00000384986.2 | |||
MTERF1 | ENST00000454222.5 | n.93+6318G>T | intron_variant | Intron 2 of 4 | 5 |
Frequencies
GnomAD3 genomes AF: 0.000118 AC: 18AN: 152174Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 251134Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135754
GnomAD4 exome AF: 0.0000178 AC: 26AN: 1461814Hom.: 0 Cov.: 30 AF XY: 0.0000151 AC XY: 11AN XY: 727202
GnomAD4 genome AF: 0.000118 AC: 18AN: 152174Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74336
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1057G>T (p.D353Y) alteration is located in exon 3 (coding exon 2) of the MTERF1 gene. This alteration results from a G to T substitution at nucleotide position 1057, causing the aspartic acid (D) at amino acid position 353 to be replaced by a tyrosine (Y). 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