4-743576-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006315.7(PCGF3):āc.365A>Gā(p.His122Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000213 in 1,598,290 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_006315.7 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PCGF3 | NM_006315.7 | c.365A>G | p.His122Arg | missense_variant | 7/11 | ENST00000362003.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PCGF3 | ENST00000362003.10 | c.365A>G | p.His122Arg | missense_variant | 7/11 | 5 | NM_006315.7 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000854 AC: 13AN: 152210Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000322 AC: 8AN: 248768Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135114
GnomAD4 exome AF: 0.0000145 AC: 21AN: 1446080Hom.: 0 Cov.: 26 AF XY: 0.0000111 AC XY: 8AN XY: 720302
GnomAD4 genome ? AF: 0.0000854 AC: 13AN: 152210Hom.: 0 Cov.: 33 AF XY: 0.0000672 AC XY: 5AN XY: 74360
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 22, 2022 | The c.365A>G (p.H122R) alteration is located in exon 7 (coding exon 4) of the PCGF3 gene. This alteration results from a A to G substitution at nucleotide position 365, causing the histidine (H) at amino acid position 122 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