22-45327917-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_017911.4(FAM118A):c.376C>T(p.Arg126Trp) variant causes a missense change. The variant allele was found at a frequency of 0.000383 in 1,614,200 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_017911.4 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 |
---|---|---|---|---|---|---|---|---|
FAM118A | NM_017911.4 | c.376C>T | p.Arg126Trp | missense_variant | Exon 4 of 9 | ENST00000441876.7 | NP_060381.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000204 AC: 31AN: 152240Hom.: 0 Cov.: 35
GnomAD3 exomes AF: 0.000159 AC: 40AN: 251370Hom.: 0 AF XY: 0.000132 AC XY: 18AN XY: 135856
GnomAD4 exome AF: 0.000402 AC: 587AN: 1461842Hom.: 1 Cov.: 33 AF XY: 0.000360 AC XY: 262AN XY: 727220
GnomAD4 genome AF: 0.000203 AC: 31AN: 152358Hom.: 0 Cov.: 35 AF XY: 0.000201 AC XY: 15AN XY: 74502
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.376C>T (p.R126W) alteration is located in exon 5 (coding exon 3) of the FAM118A gene. This alteration results from a C to T substitution at nucleotide position 376, causing the arginine (R) at amino acid position 126 to be replaced by a tryptophan (W). 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