22-45328062-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_017911.4(FAM118A):āc.521A>Gā(p.Lys174Arg) variant causes a missense, splice region change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 2/3 splice prediction tools predicting alterations to normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_017911.4 missense, splice_region
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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FAM118A | NM_017911.4 | c.521A>G | p.Lys174Arg | missense_variant, splice_region_variant | 4/9 | ENST00000441876.7 | NP_060381.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FAM118A | ENST00000441876.7 | c.521A>G | p.Lys174Arg | missense_variant, splice_region_variant | 4/9 | 1 | NM_017911.4 | ENSP00000395892.2 | ||
FAM118A | ENST00000216214.7 | c.521A>G | p.Lys174Arg | missense_variant, splice_region_variant | 5/10 | 2 | ENSP00000216214.3 | |||
FAM118A | ENST00000405673.5 | c.521A>G | p.Lys174Arg | missense_variant, splice_region_variant | 4/5 | 5 | ENSP00000385231.1 | |||
FAM118A | ENST00000477714.1 | n.577A>G | non_coding_transcript_exon_variant | 4/4 | 2 |
Frequencies
GnomAD3 genomes Cov.: 27
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000156 AC: 1AN: 641134Hom.: 0 Cov.: 13 AF XY: 0.00 AC XY: 0AN XY: 339038
GnomAD4 genome Cov.: 27
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 11, 2024 | The c.521A>G (p.K174R) alteration is located in exon 5 (coding exon 3) of the FAM118A gene. This alteration results from a A to G substitution at nucleotide position 521, causing the lysine (K) at amino acid position 174 to be replaced by an arginine (R). 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
Publications
No publications associated with this variant yet.