rs3733414
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_005245.4(FAT1):c.1212T>G(p.Ser404Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.603 in 1,613,644 control chromosomes in the GnomAD database, including 303,297 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S404G) has been classified as Uncertain significance.
Frequency
Consequence
NM_005245.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FAT1 | NM_005245.4 | c.1212T>G | p.Ser404Arg | missense_variant | 2/27 | ENST00000441802.7 | |
FAT1 | XM_005262834.4 | c.1212T>G | p.Ser404Arg | missense_variant | 2/28 | ||
FAT1 | XM_005262835.3 | c.1212T>G | p.Ser404Arg | missense_variant | 2/28 | ||
FAT1 | XM_006714139.4 | c.1212T>G | p.Ser404Arg | missense_variant | 2/27 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FAT1 | ENST00000441802.7 | c.1212T>G | p.Ser404Arg | missense_variant | 2/27 | 5 | NM_005245.4 | P1 | |
FAT1 | ENST00000509647.1 | c.1212T>G | p.Ser404Arg | missense_variant | 2/2 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.518 AC: 78637AN: 151900Hom.: 22592 Cov.: 32
GnomAD3 exomes AF: 0.559 AC: 139284AN: 249180Hom.: 41387 AF XY: 0.566 AC XY: 76475AN XY: 135176
GnomAD4 exome AF: 0.612 AC: 894094AN: 1461626Hom.: 280698 Cov.: 67 AF XY: 0.610 AC XY: 443625AN XY: 727094
GnomAD4 genome ? AF: 0.518 AC: 78673AN: 152018Hom.: 22599 Cov.: 32 AF XY: 0.515 AC XY: 38242AN XY: 74298
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | Nov 11, 2018 | This variant is associated with the following publications: (PMID: 29748316) - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at