chr6-3264222-G-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001128592.2(PSMG4):āc.264G>Cā(p.Lys88Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000509 in 1,551,638 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/16 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001128592.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PSMG4 | NM_001128591.2 | c.250+463G>C | intron_variant | ENST00000438998.7 | NP_001122063.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PSMG4 | ENST00000438998.7 | c.250+463G>C | intron_variant | 2 | NM_001128591.2 | ENSP00000413353.3 |
Frequencies
GnomAD3 genomes AF: 0.000230 AC: 35AN: 152238Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000649 AC: 10AN: 154100Hom.: 0 AF XY: 0.0000490 AC XY: 4AN XY: 81696
GnomAD4 exome AF: 0.0000314 AC: 44AN: 1399282Hom.: 0 Cov.: 31 AF XY: 0.0000275 AC XY: 19AN XY: 690164
GnomAD4 genome AF: 0.000230 AC: 35AN: 152356Hom.: 0 Cov.: 34 AF XY: 0.000188 AC XY: 14AN XY: 74498
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 24, 2023 | The c.264G>C (p.K88N) alteration is located in exon 3 (coding exon 3) of the PSMG4 gene. This alteration results from a G to C substitution at nucleotide position 264, causing the lysine (K) at amino acid position 88 to be replaced by an asparagine (N). 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