NM_001386814.1:c.373C>T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001386814.1(AIFM3):c.373C>T(p.Arg125Trp) variant causes a missense change. The variant allele was found at a frequency of 0.00000412 in 1,458,064 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001386814.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AIFM3 | NM_001386814.1 | c.373C>T | p.Arg125Trp | missense_variant | Exon 5 of 21 | ENST00000440238.4 | NP_001373743.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000820 AC: 2AN: 244010Hom.: 0 AF XY: 0.00000754 AC XY: 1AN XY: 132540
GnomAD4 exome AF: 0.00000412 AC: 6AN: 1458064Hom.: 0 Cov.: 34 AF XY: 0.00000552 AC XY: 4AN XY: 725102
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.373C>T (p.R125W) alteration is located in exon 5 (coding exon 4) of the AIFM3 gene. This alteration results from a C to T substitution at nucleotide position 373, causing the arginine (R) at amino acid position 125 to be replaced by a tryptophan (W). 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