17-6447529-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_019013.3(PIMREG):c.361C>T(p.Arg121Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000601 in 1,614,124 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R121Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_019013.3 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PIMREG | NM_019013.3 | c.361C>T | p.Arg121Trp | missense_variant | Exon 3 of 6 | ENST00000572447.6 | NP_061886.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000118 AC: 18AN: 152216Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000599 AC: 15AN: 250518Hom.: 0 AF XY: 0.0000517 AC XY: 7AN XY: 135470
GnomAD4 exome AF: 0.0000540 AC: 79AN: 1461790Hom.: 0 Cov.: 32 AF XY: 0.0000564 AC XY: 41AN XY: 727194
GnomAD4 genome AF: 0.000118 AC: 18AN: 152334Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74492
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.361C>T (p.R121W) alteration is located in exon 3 (coding exon 2) of the FAM64A gene. This alteration results from a C to T substitution at nucleotide position 361, causing the arginine (R) at amino acid position 121 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