chr7-91873728-T-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_006980.5(MTERF1):āc.1066A>Gā(p.Ile356Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,806 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 ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. I356T) has been classified as Uncertain significance.
Frequency
Consequence
NM_006980.5 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 |
---|---|---|---|---|---|---|---|
MTERF1 | NM_006980.5 | c.1066A>G | p.Ile356Val | missense_variant | 3/3 | ENST00000351870.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MTERF1 | ENST00000351870.8 | c.1066A>G | p.Ile356Val | missense_variant | 3/3 | 1 | NM_006980.5 | ||
MTERF1 | ENST00000419292.1 | c.1006A>G | p.Ile336Val | missense_variant | 2/2 | 1 | P1 | ||
MTERF1 | ENST00000406735.6 | c.1006A>G | p.Ile336Val | missense_variant | 4/4 | 2 | P1 | ||
MTERF1 | ENST00000454222.5 | n.93+6327A>G | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461806Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 727200
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at