20-45939023-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_022104.4(PCIF1):āc.24C>Gā(p.Ser8Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000371 in 1,613,844 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_022104.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000171 AC: 26AN: 152040Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000127 AC: 32AN: 251088Hom.: 0 AF XY: 0.0000958 AC XY: 13AN XY: 135728
GnomAD4 exome AF: 0.000391 AC: 572AN: 1461804Hom.: 0 Cov.: 32 AF XY: 0.000388 AC XY: 282AN XY: 727222
GnomAD4 genome AF: 0.000171 AC: 26AN: 152040Hom.: 0 Cov.: 32 AF XY: 0.000189 AC XY: 14AN XY: 74266
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 20, 2021 | The c.24C>G (p.S8R) alteration is located in exon 3 (coding exon 1) of the PCIF1 gene. This alteration results from a C to G substitution at nucleotide position 24, causing the serine (S) at amino acid position 8 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