chr7-47833247-A-C
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_138295.5(PKD1L1):c.6180T>G(p.Pro2060=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. P2060P) has been classified as Benign.
Frequency
Consequence
NM_138295.5 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PKD1L1 | NM_138295.5 | c.6180T>G | p.Pro2060= | synonymous_variant | 41/57 | ENST00000289672.7 | |
PKD1L1 | XM_017011798.3 | c.6357T>G | p.Pro2119= | synonymous_variant | 42/59 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PKD1L1 | ENST00000289672.7 | c.6180T>G | p.Pro2060= | synonymous_variant | 41/57 | 1 | NM_138295.5 | P2 | |
PKD1L1 | ENST00000690269.1 | c.6180T>G | p.Pro2060= | synonymous_variant | 41/58 | A2 | |||
PKD1L1 | ENST00000685709.1 | c.6012T>G | p.Pro2004= | synonymous_variant | 40/56 | A2 | |||
PKD1L1 | ENST00000686775.1 | c.376+1092T>G | intron_variant |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 52
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at