rs1057517545
Positions:
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP6
The NM_000455.5(STK11):c.920+7_920+8delGGinsCA variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Genomes: not found (cov: 34)
Consequence
STK11
NM_000455.5 splice_region, intron
NM_000455.5 splice_region, intron
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 1.79
Genes affected
STK11 (HGNC:11389): (serine/threonine kinase 11) The protein encoded by this gene is a serine/threonine kinase that regulates cell polarity and energy metabolism and functions as a tumor suppressor. Mutations in this gene have been associated with the autosomal dominant Peutz-Jeghers syndrome, as well as with skin, pancreatic, and testicular cancers. [provided by RefSeq, May 2022]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 1 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP6
Variant 19-1222013-GG-CA is Benign according to our data. Variant chr19-1222013-GG-CA is described in ClinVar as [Conflicting_classifications_of_pathogenicity]. Clinvar id is 371810.We mark this variant Likely_benign, oryginal submissions are: {Likely_benign=3, Uncertain_significance=1}.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
STK11 | NM_000455.5 | c.920+7_920+8delGGinsCA | splice_region_variant, intron_variant | ENST00000326873.12 | NP_000446.1 | |||
STK11 | NM_001407255.1 | c.920+7_920+8delGGinsCA | splice_region_variant, intron_variant | NP_001394184.1 | ||||
STK11 | NR_176325.1 | n.2187+7_2187+8delGGinsCA | splice_region_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
STK11 | ENST00000326873.12 | c.920+7_920+8delGGinsCA | splice_region_variant, intron_variant | 1 | NM_000455.5 | ENSP00000324856.6 | ||||
STK11 | ENST00000652231.1 | c.920+7_920+8delGGinsCA | splice_region_variant, intron_variant | ENSP00000498804.1 | ||||||
STK11 | ENST00000585748.3 | c.548+7_548+8delGGinsCA | splice_region_variant, intron_variant | 3 | ENSP00000477641.2 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD3 genomes
Cov.:
34
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome Cov.: 34
GnomAD4 genome
Cov.:
34
ClinVar
Significance: Conflicting classifications of pathogenicity
Submissions summary: Uncertain:1Benign:3
Revision: criteria provided, conflicting classifications
LINK: link
Submissions by phenotype
Peutz-Jeghers syndrome Uncertain:1Benign:2
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Mar 03, 2023 | - - |
Likely benign, criteria provided, single submitter | clinical testing | Myriad Genetics, Inc. | Apr 12, 2023 | This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing. - |
Uncertain significance, criteria provided, single submitter | clinical testing | Counsyl | Jan 06, 2016 | - - |
Hereditary cancer-predisposing syndrome Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Color Diagnostics, LLC DBA Color Health | Nov 16, 2022 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at