rs306278
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_007349.4(PAXIP1):c.216+1562T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152,092 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.
Frequency
Consequence
NM_007349.4 intron
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 | UniProt |
---|---|---|---|---|---|---|---|
PAXIP1 | NM_007349.4 | c.216+1562T>G | intron_variant | ENST00000404141.6 | |||
PAXIP1 | XM_011515982.4 | c.138+1562T>G | intron_variant | ||||
PAXIP1 | XM_047420059.1 | c.-526+1562T>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PAXIP1 | ENST00000404141.6 | c.216+1562T>G | intron_variant | 5 | NM_007349.4 | P1 | |||
PAXIP1 | ENST00000419436.1 | c.198+1562T>G | intron_variant | 4 | |||||
PAXIP1 | ENST00000457196.5 | c.216+1562T>G | intron_variant, NMD_transcript_variant | 5 | |||||
PAXIP1 | ENST00000473219.5 | n.2156+1562T>G | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 151974Hom.: 0 Cov.: 32
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152092Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74338
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.