rs926572875
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001257096.2(PAX1):c.75C>A(p.Gly25Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000662 in 150,976 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. G25G) has been classified as Likely benign.
Frequency
Consequence
NM_001257096.2 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PAX1 | NM_001257096.2 | c.75C>A | p.Gly25Gly | synonymous_variant | Exon 1 of 5 | ENST00000613128.5 | NP_001244025.1 | |
PAX1 | NM_006192.5 | c.75C>A | p.Gly25Gly | synonymous_variant | Exon 1 of 5 | NP_006183.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PAX1 | ENST00000613128.5 | c.75C>A | p.Gly25Gly | synonymous_variant | Exon 1 of 5 | 1 | NM_001257096.2 | ENSP00000481334.1 | ||
PAX1 | ENST00000398485.6 | c.75C>A | p.Gly25Gly | synonymous_variant | Exon 1 of 5 | 5 | ENSP00000381499.2 |
Frequencies
GnomAD3 genomes AF: 0.00000663 AC: 1AN: 150870Hom.: 0 Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1125126Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 539846
GnomAD4 genome AF: 0.00000662 AC: 1AN: 150976Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 73730
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.