14-20996557-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_022734.3(METTL17):āc.1111A>Gā(p.Met371Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000107 in 1,613,680 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_022734.3 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
METTL17 | NM_022734.3 | c.1111A>G | p.Met371Val | missense_variant | 13/14 | ENST00000339374.11 | NP_073571.1 | |
LOC101929718 | NR_110139.1 | n.905-227T>C | intron_variant, non_coding_transcript_variant | |||||
METTL17 | NM_001029991.2 | c.1111A>G | p.Met371Val | missense_variant | 13/13 | NP_001025162.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
METTL17 | ENST00000339374.11 | c.1111A>G | p.Met371Val | missense_variant | 13/14 | 1 | NM_022734.3 | ENSP00000343041 | P1 | |
ENST00000647921.1 | n.1053-227T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152220Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 250892Hom.: 0 AF XY: 0.0000369 AC XY: 5AN XY: 135602
GnomAD4 exome AF: 0.000116 AC: 169AN: 1461460Hom.: 0 Cov.: 31 AF XY: 0.000118 AC XY: 86AN XY: 726956
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152220Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74358
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 11, 2022 | The c.1111A>G (p.M371V) alteration is located in exon 13 (coding exon 13) of the METTL17 gene. This alteration results from a A to G substitution at nucleotide position 1111, causing the methionine (M) at amino acid position 371 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