rs12926160
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP7BS2
The NM_001009944.3(PKD1):c.9330T>G(p.Pro3110=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000453 in 1,543,676 control chromosomes in the GnomAD database, including 1 homozygotes. 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. P3110P) has been classified as Benign.
Frequency
Consequence
NM_001009944.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PKD1 | NM_001009944.3 | c.9330T>G | p.Pro3110= | synonymous_variant | 26/46 | ENST00000262304.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PKD1 | ENST00000262304.9 | c.9330T>G | p.Pro3110= | synonymous_variant | 26/46 | 1 | NM_001009944.3 | P5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000403 AC: 6AN: 148772Hom.: 1 Cov.: 31
GnomAD4 exome AF: 7.17e-7 AC: 1AN: 1394904Hom.: 0 Cov.: 31 AF XY: 0.00000144 AC XY: 1AN XY: 694884
GnomAD4 genome ? AF: 0.0000403 AC: 6AN: 148772Hom.: 1 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 72534
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at