chr7-82949964-G-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BS1
The NM_033026.6(PCLO):āc.10624C>Gā(p.Arg3542Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000186 in 1,613,276 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R3542Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_033026.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PCLO | NM_033026.6 | c.10624C>G | p.Arg3542Gly | missense_variant | 6/25 | ENST00000333891.14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PCLO | ENST00000333891.14 | c.10624C>G | p.Arg3542Gly | missense_variant | 6/25 | 2 | NM_033026.6 | P1 | |
PCLO | ENST00000437081.1 | c.784C>G | p.Arg262Gly | missense_variant | 1/2 | 1 | |||
PCLO | ENST00000423517.6 | c.10624C>G | p.Arg3542Gly | missense_variant | 6/20 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151622Hom.: 0 Cov.: 31
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461654Hom.: 0 Cov.: 34 AF XY: 0.00000138 AC XY: 1AN XY: 727114
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151622Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 73988
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at