rs138655269
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001291303.3(FAT4):c.8021A>C(p.Asp2674Ala) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000131 in 152,096 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001291303.3 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 |
---|---|---|---|---|---|---|---|---|
FAT4 | NM_001291303.3 | c.8021A>C | p.Asp2674Ala | missense_variant | Exon 10 of 18 | ENST00000394329.9 | NP_001278232.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FAT4 | ENST00000394329.9 | c.8021A>C | p.Asp2674Ala | missense_variant | Exon 10 of 18 | 5 | NM_001291303.3 | ENSP00000377862.4 | ||
FAT4 | ENST00000335110.5 | c.2909A>C | p.Asp970Ala | missense_variant | Exon 9 of 15 | 1 | ENSP00000335169.5 | |||
FAT4 | ENST00000674496.2 | c.2792A>C | p.Asp931Ala | missense_variant | Exon 9 of 17 | ENSP00000501473.2 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152096Hom.: 0 Cov.: 32
GnomAD4 exome Cov.: 41
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152096Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74330
ClinVar
Submissions by phenotype
not provided Uncertain:1
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at