4-2631033-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001366318.2(FAM193A):c.902C>T(p.Ser301Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000583 in 1,613,556 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001366318.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FAM193A | NM_001366318.2 | c.902C>T | p.Ser301Leu | missense_variant | Exon 5 of 21 | ENST00000637812.2 | NP_001353247.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FAM193A | ENST00000637812.2 | c.902C>T | p.Ser301Leu | missense_variant | Exon 5 of 21 | 5 | NM_001366318.2 | ENSP00000490564.1 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152192Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000233 AC: 58AN: 248600Hom.: 0 AF XY: 0.000192 AC XY: 26AN XY: 135084
GnomAD4 exome AF: 0.0000589 AC: 86AN: 1461246Hom.: 0 Cov.: 32 AF XY: 0.0000481 AC XY: 35AN XY: 726958
GnomAD4 genome AF: 0.0000525 AC: 8AN: 152310Hom.: 0 Cov.: 32 AF XY: 0.0000806 AC XY: 6AN XY: 74472
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.29C>T (p.S10L) alteration is located in exon 3 (coding exon 1) of the FAM193A gene. This alteration results from a C to T substitution at nucleotide position 29, causing the serine (S) at amino acid position 10 to be replaced by a leucine (L). 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