rs1049206
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_002705.5(PPL):c.3510G>T(p.Val1170=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,796 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_002705.5 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PPL | NM_002705.5 | c.3510G>T | p.Val1170= | synonymous_variant | 22/22 | ENST00000345988.7 | |
PPL | XM_017023374.3 | c.3597G>T | p.Val1199= | synonymous_variant | 22/22 | ||
PPL | XM_017023375.3 | c.3558G>T | p.Val1186= | synonymous_variant | 22/22 | ||
PPL | XM_006720902.5 | c.3549G>T | p.Val1183= | synonymous_variant | 22/22 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PPL | ENST00000345988.7 | c.3510G>T | p.Val1170= | synonymous_variant | 22/22 | 1 | NM_002705.5 | P3 | |
PPL | ENST00000590782.6 | c.3504G>T | p.Val1168= | synonymous_variant | 22/22 | 5 | A1 | ||
PPL | ENST00000592772.1 | c.1773G>T | p.Val591= | synonymous_variant | 10/10 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461796Hom.: 0 Cov.: 85 AF XY: 0.00 AC XY: 0AN XY: 727208
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at