rs12597040
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4BP6_ModerateBA1
The ENST00000525539.5(PKD1L2):c.3107T>C(p.Leu1036Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.302 in 1,452,888 control chromosomes in the GnomAD database, including 85,572 homozygotes. In-silico tool predicts a benign outcome for this variant. 4/5 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.31 ( 7873 hom., cov: 34)
Exomes 𝑓: 0.30 ( 77699 hom. )
Consequence
PKD1L2
ENST00000525539.5 missense
ENST00000525539.5 missense
Scores
2
Clinical Significance
Conservation
PhyloP100: 0.284
Genes affected
PKD1L2 (HGNC:21715): (polycystin 1 like 2 (gene/pseudogene)) This gene encodes a member of the polycystin protein family. This protein may function as a G-protein-coupled component or regulator of cation channel pores. The long isoform of this protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. Alternative splicing results in multiple transcript variants encoding distinct isoforms. This gene is a polymorphic pseudogene in humans. [provided by RefSeq, May 2022]
Genome browser will be placed here
ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -11 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.11).
BP6
?
Variant 16-81165950-A-G is Benign according to our data. Variant chr16-81165950-A-G is described in ClinVar as [Benign]. Clinvar id is 2788471.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
?
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.654 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PKD1L2 | NR_126532.3 | n.3122T>C | non_coding_transcript_exon_variant | 19/43 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PKD1L2 | ENST00000525539.5 | c.3107T>C | p.Leu1036Pro | missense_variant | 19/43 | 1 | |||
PKD1L2 | ENST00000533478.5 | c.1052T>C | p.Leu351Pro | missense_variant | 8/32 | 1 | |||
PKD1L2 | ENST00000299598.11 | n.1436T>C | non_coding_transcript_exon_variant | 10/25 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.306 AC: 46479AN: 151846Hom.: 7863 Cov.: 34
GnomAD3 genomes
?
AF:
AC:
46479
AN:
151846
Hom.:
Cov.:
34
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
GnomAD3 exomes AF: 0.303 AC: 53998AN: 178408Hom.: 12781 AF XY: 0.297 AC XY: 28444AN XY: 95714
GnomAD3 exomes
AF:
AC:
53998
AN:
178408
Hom.:
AF XY:
AC XY:
28444
AN XY:
95714
Gnomad AFR exome
AF:
Gnomad AMR exome
AF:
Gnomad ASJ exome
AF:
Gnomad EAS exome
AF:
Gnomad SAS exome
AF:
Gnomad FIN exome
AF:
Gnomad NFE exome
AF:
Gnomad OTH exome
AF:
GnomAD4 exome AF: 0.302 AC: 392509AN: 1300924Hom.: 77699 Cov.: 48 AF XY: 0.304 AC XY: 196396AN XY: 646636
GnomAD4 exome
AF:
AC:
392509
AN:
1300924
Hom.:
Cov.:
48
AF XY:
AC XY:
196396
AN XY:
646636
Gnomad4 AFR exome
AF:
Gnomad4 AMR exome
AF:
Gnomad4 ASJ exome
AF:
Gnomad4 EAS exome
AF:
Gnomad4 SAS exome
AF:
Gnomad4 FIN exome
AF:
Gnomad4 NFE exome
AF:
Gnomad4 OTH exome
AF:
GnomAD4 genome ? AF: 0.306 AC: 46514AN: 151964Hom.: 7873 Cov.: 34 AF XY: 0.315 AC XY: 23365AN XY: 74258
GnomAD4 genome
?
AF:
AC:
46514
AN:
151964
Hom.:
Cov.:
34
AF XY:
AC XY:
23365
AN XY:
74258
Gnomad4 AFR
AF:
Gnomad4 AMR
AF:
Gnomad4 ASJ
AF:
Gnomad4 EAS
AF:
Gnomad4 SAS
AF:
Gnomad4 FIN
AF:
Gnomad4 NFE
AF:
Gnomad4 OTH
AF:
Alfa
AF:
Hom.:
Bravo
AF:
Asia WGS
AF:
AC:
1946
AN:
3478
ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Nov 02, 2023 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at