chr8-96245865-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015942.5(MTERF3):āc.892A>Gā(p.Met298Val) 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 1,461,322 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_015942.5 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 |
---|---|---|---|---|---|---|---|
MTERF3 | NM_015942.5 | c.892A>G | p.Met298Val | missense_variant | 6/8 | ENST00000287025.4 | |
MTERF3 | NM_001286643.1 | c.892A>G | p.Met298Val | missense_variant | 6/9 | ||
MTERF3 | NM_001362964.1 | c.322A>G | p.Met108Val | missense_variant | 6/8 | ||
MTERF3 | XM_011517054.3 | c.553A>G | p.Met185Val | missense_variant | 6/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MTERF3 | ENST00000287025.4 | c.892A>G | p.Met298Val | missense_variant | 6/8 | 1 | NM_015942.5 | P1 | |
MTERF3 | ENST00000523821.5 | c.892A>G | p.Met298Val | missense_variant | 6/9 | 1 | |||
MTERF3 | ENST00000522822.5 | c.529A>G | p.Met177Val | missense_variant | 4/6 | 2 | |||
MTERF3 | ENST00000524341.5 | c.322A>G | p.Met108Val | missense_variant | 4/5 | 3 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 1AN: 152214Hom.: 0 Cov.: 33 FAILED QC
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251324Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135842
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461322Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 726978
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000656 AC: 1AN: 152332Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74502
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 07, 2022 | The c.892A>G (p.M298V) alteration is located in exon 6 (coding exon 5) of the MTERF3 gene. This alteration results from a A to G substitution at nucleotide position 892, causing the methionine (M) at amino acid position 298 to be replaced by a valine (V). 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