rs200828005
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_005245.4(FAT1):c.4336G>C(p.Val1446Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. V1446I) has been classified as Likely benign.
Frequency
Consequence
NM_005245.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FAT1 | NM_005245.4 | c.4336G>C | p.Val1446Leu | missense_variant | 8/27 | ENST00000441802.7 | |
FAT1 | XM_005262834.4 | c.4336G>C | p.Val1446Leu | missense_variant | 8/28 | ||
FAT1 | XM_005262835.3 | c.4336G>C | p.Val1446Leu | missense_variant | 8/28 | ||
FAT1 | XM_006714139.4 | c.4336G>C | p.Val1446Leu | missense_variant | 8/27 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FAT1 | ENST00000441802.7 | c.4336G>C | p.Val1446Leu | missense_variant | 8/27 | 5 | NM_005245.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 32
GnomAD4 genome ? Cov.: 33
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.