1-92476103-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_005263.5(GFI1):āc.1195G>Cā(p.Asp399His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,738 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D399N) has been classified as Uncertain significance.
Frequency
Consequence
NM_005263.5 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 |
---|---|---|---|---|---|---|---|---|---|---|
GFI1 | ENST00000294702.6 | c.1195G>C | p.Asp399His | missense_variant | Exon 7 of 7 | 2 | NM_005263.5 | ENSP00000294702.5 | ||
GFI1 | ENST00000370332.5 | c.1195G>C | p.Asp399His | missense_variant | Exon 7 of 7 | 1 | ENSP00000359357.1 | |||
GFI1 | ENST00000427103.6 | c.1195G>C | p.Asp399His | missense_variant | Exon 7 of 7 | 1 | ENSP00000399719.1 | |||
GFI1 | ENST00000696667.1 | c.243G>C | p.Ala81Ala | synonymous_variant | Exon 2 of 2 | ENSP00000512792.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461738Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727146
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.