rs3842776
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_022141.7(PARVG):āc.80G>Cā(p.Gly27Ala) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.00000137 in 1,460,934 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predicting alterations to normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_022141.7 missense, splice_region
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PARVG | NM_022141.7 | c.80G>C | p.Gly27Ala | missense_variant, splice_region_variant | 4/14 | ENST00000444313.8 | |
PARVG | NM_001137605.3 | c.80G>C | p.Gly27Ala | missense_variant, splice_region_variant | 4/14 | ||
PARVG | XM_047441455.1 | c.281G>C | p.Gly94Ala | missense_variant, splice_region_variant | 3/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PARVG | ENST00000444313.8 | c.80G>C | p.Gly27Ala | missense_variant, splice_region_variant | 4/14 | 1 | NM_022141.7 | P1 | |
ENST00000623969.1 | n.1932C>G | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000798 AC: 2AN: 250686Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135578
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460934Hom.: 0 Cov.: 30 AF XY: 0.00000275 AC XY: 2AN XY: 726818
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at