ClinVar Genomic variation as it relates to human health
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu)
Variation ID: 7461 Accession: VCV000007461.62
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 19p13.3 19: 1223126 (GRCh38) [ NCBI UCSC ] 19: 1223125 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Jun 9, 2014 May 1, 2024 Feb 5, 2024 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_000455.5:c.1062C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000446.1:p.Phe354Leu missense NC_000019.10:g.1223126C>G NC_000019.9:g.1223125C>G NG_007460.2:g.38720C>G LRG_319:g.38720C>G LRG_319t1:c.1062C>G LRG_319p1:p.Phe354Leu Q15831:p.Phe354Leu - Protein change
- F354L
- Other names
- p.F354L:TTC>TTG
- Canonical SPDI
- NC_000019.10:1223125:C:G
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
0.01118 (G)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00348
Trans-Omics for Precision Medicine (TOPMed) 0.00542
1000 Genomes Project 30x 0.01046
1000 Genomes Project 0.01118
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
STK11 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2343 | 2615 | |
LOC130062899 | - | - | - | GRCh38 | - | 212 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Benign/Likely benign (8) |
criteria provided, multiple submitters, no conflicts
|
Feb 5, 2024 | RCV000007887.38 | |
Benign/Likely benign (6) |
criteria provided, multiple submitters, no conflicts
|
Jun 10, 2020 | RCV000115593.19 | |
Benign (12) |
criteria provided, multiple submitters, no conflicts
|
Aug 15, 2023 | RCV000122091.40 | |
Benign (5) |
criteria provided, multiple submitters, no conflicts
|
Jan 1, 2024 | RCV000656543.30 | |
Benign (1) |
no assertion criteria provided
|
- | RCV001355263.9 | |
Benign (1) |
criteria provided, single submitter
|
May 6, 2019 | RCV001797996.10 | |
Likely benign (1) |
criteria provided, single submitter
|
Oct 21, 2021 | RCV002504766.8 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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---|---|---|---|---|---|
Benign
(-)
|
criteria provided, single submitter
Method: clinical testing
|
NOT SPECIFIED
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV000304385.1
First in ClinVar: Oct 02, 2016 Last updated: Oct 02, 2016 |
|
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Benign
(Mar 28, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000540465.1
First in ClinVar: Oct 02, 2016 Last updated: Oct 02, 2016 |
Comment:
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or … (more)
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 3.7% (283/7750) East Asian chromosomes; ClinVar: 3 benign, 1 VUS (less)
Method: Genome/Exome Filtration
|
|
Benign
(Feb 01, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000700379.2
First in ClinVar: Feb 19, 2018 Last updated: May 03, 2018 |
Number of individuals with the variant: 1
Sex: mixed
|
|
Benign
(Mar 06, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Peutz-Jeghers syndrome
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV000410747.3
First in ClinVar: Dec 06, 2016 Last updated: May 31, 2020 |
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. (less)
|
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Benign
(May 06, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Breast and/or ovarian cancer
Affected status: unknown
Allele origin:
germline
|
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Accession: SCV002042760.1
First in ClinVar: Dec 29, 2021 Last updated: Dec 29, 2021 |
|
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Benign
(Feb 01, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Peutz-Jeghers syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000153890.12
First in ClinVar: Jun 09, 2014 Last updated: Feb 20, 2024 |
|
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Benign
(Jan 01, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV003918029.7
First in ClinVar: Apr 23, 2023 Last updated: Apr 15, 2024 |
Comment:
STK11: BS1, BS2
Number of individuals with the variant: 19
|
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Benign
(Dec 18, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Vantari Genetics
Accession: SCV000267092.1
First in ClinVar: Apr 13, 2016 Last updated: Apr 13, 2016 |
|
|
Benign
(Nov 05, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000292116.1
First in ClinVar: Jul 08, 2016 Last updated: Jul 08, 2016 |
|
|
Likely benign
(Jan 16, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.
Accession: SCV000747824.1
First in ClinVar: Jul 08, 2016 Last updated: Jul 08, 2016 |
|
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Benign
(Mar 03, 2015)
|
criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000149502.3
First in ClinVar: May 17, 2014 Last updated: Apr 13, 2016 |
Comment:
This variant is associated with the following publications: (PMID: 20393878, 24604241, 22995991, 20722467, 25333069, 20981092, 24728327, 15121768, 25751324, 26182300, 22942091, 27153395, 24928005, 28185117, 30092773, 30334930, … (more)
This variant is associated with the following publications: (PMID: 20393878, 24604241, 22995991, 20722467, 25333069, 20981092, 24728327, 15121768, 25751324, 26182300, 22942091, 27153395, 24928005, 28185117, 30092773, 30334930, 33250696) (less)
|
|
Likely benign
(Jul 15, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Peutz-Jeghers syndrome
Affected status: no
Allele origin:
germline
|
Genome-Nilou Lab
Accession: SCV002057454.1
First in ClinVar: Jan 08, 2022 Last updated: Jan 08, 2022 |
|
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Benign
(Jun 10, 2020)
|
criteria provided, single submitter
Method: curation
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Sema4, Sema4
Accession: SCV002531629.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022 |
|
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Benign
(Mar 28, 2016)
|
criteria provided, single submitter
Method: clinical testing
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Peutz-Jeghers syndrome
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000488404.2
First in ClinVar: Dec 06, 2016 Last updated: Dec 24, 2022 |
|
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Likely benign
(Oct 21, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Melanoma, cutaneous malignant, susceptibility to, 1
Peutz-Jeghers syndrome Carcinoma of pancreas Germ cell tumor of testis
Affected status: unknown
Allele origin:
unknown
|
Fulgent Genetics, Fulgent Genetics
Accession: SCV002798542.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
|
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Benign
(Apr 14, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Peutz-Jeghers syndrome
Affected status: unknown
Allele origin:
unknown
|
Myriad Genetics, Inc.
Accession: SCV004017982.1
First in ClinVar: Jul 29, 2023 Last updated: Jul 29, 2023 |
Comment:
This variant is considered benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence … (more)
This variant is considered benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance. (less)
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Benign
(Aug 15, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV002552030.4
First in ClinVar: Jul 30, 2022 Last updated: Aug 18, 2023 |
|
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Benign
(May 10, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000605311.8
First in ClinVar: Sep 28, 2017 Last updated: Feb 20, 2024 |
|
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Benign
(Feb 05, 2024)
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criteria provided, single submitter
Method: clinical testing
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Peutz-Jeghers syndrome
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
All of Us Research Program, National Institutes of Health
Accession: SCV004818972.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
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Number of individuals with the variant: 951
|
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Benign
(Jul 15, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000185922.9
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation … (more)
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
|
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Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
Malignant tumor of breast
Affected status: yes
Allele origin:
unknown
|
Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001550094.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
The STK11 p.Phe354Leu variant was identified in 20 of 1472 proband chromosomes (frequency: 0.014) from Korean, Japanese, Chinese and American individuals or families with Peutz-Jeghers … (more)
The STK11 p.Phe354Leu variant was identified in 20 of 1472 proband chromosomes (frequency: 0.014) from Korean, Japanese, Chinese and American individuals or families with Peutz-Jeghers disease, and Finnish, Korean, (French) Canadian, Portuguese, Italian, American individuals with CRC, high risk breast cancer, hereditary diffuse gastric cancer, pancreatic cancer, and medullary thyroid cancer; and was identified in 5 of 824 control chromosomes (frequency: 0.006) from healthy individuals (Yang 2010, Yajima 2013, Liu 2012, Huang 2015, Amos 2003, Launonen 2000, Guenard 2010, Hansford 2015, Jordan 2016, Simbolo 2014 ). Segregation of the variant with disease was not seen in 2 healthy family members of the PJ affected proband (Liu 2012), or an affected (breast cancer) family member of another proband (Guenard 2010). In a case report of a 76 year old female with papillary thyroid cancer with no clinical manifestations of PJ, the variant was identified to co-occur with a BRAF mutation (p.V600E, c.1799T>A) in the tumour (Shuanzeng 2016). In another study, the variant was identified in 2 Chinese patients with sporadic PJS, co-occurring with separate pathogenic STK11 mutations (del(exon1) and c.890G > A) (Tan 2017). Functional assays of the STK11 exons 8 and 9, localized to the C-terminal non-catalytic region, have shown that mutations within this region neither disrupt STK11 activity nor interfere with STK11 induced growth arrest, but do lessen STK11-mediated activation of the AMP-activated protein kinase (AMPK) and downstream signaling (Forcet 2005). The variant was also identified in dbSNP (ID: rs59912467) “With Likely benign, other allele”, Clinvar (classified as conflicting interpretations of pathogenicity: benign by GeneDx, Invitae, Ambry Genetics, Prevention Genetics, Counsyl, Laboratory for Molecular Medicine (Partners for HealthCare Personalized Medicine), Vantari Genetics, Color Genomics Inc; likely benign by Illumina; uncertain significance by Foundation Medicine Inc, OMIM, Pathway Genomics; and unclassified by ITMI), Clinvitae (4X), Cosmic 41X in tumours of the brain, breast, lung, large intestine, salivary gland and malignant melanoma), LOVD 3.0 (3X), Zhejiang Colon Cancer database (11X, all in combination with other multiple STK11 variants, including pathogenic variants: c.842delC, p.Pro281ArgfsX6/c.996G>A, p.Trp332X/c.465-1G>T); and was not identified in the Insight Hereditary Tumors Database. The variant was identified in control databases in 1363 (17 homozygous) of 273698 chromosomes at a frequency of 0.005 increasing the likelihood this could be a low frequency benign variant (Genome Aggregation Consortium Feb 27, 2017), being identified in the following population at a frequency greater than 1%: East Asian in 658 (15 homozygous) of 18796 chromosomes (freq: 0.035). The p.Phe354 residue is conserved in in mammals but not in more distantly related organisms however computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) do not suggest a high likelihood of impact to the protein; this information is not predictive enough to rule out pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. In summary, based on the above information this variant meets our laboratory's criteria to be classified as benign (less)
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Uncertain significance
(Jul 24, 2014)
|
no assertion criteria provided
Method: clinical testing
|
Peutz-Jeghers syndrome
Affected status: unknown
Allele origin:
germline
|
Pathway Genomics
Accession: SCV000189992.1
First in ClinVar: Oct 19, 2014 Last updated: Oct 19, 2014 |
|
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Uncertain significance
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
unknown
|
Foundation Medicine, Inc.
Accession: SCV000299350.1
First in ClinVar: Sep 23, 2016 Last updated: Sep 23, 2016 |
|
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Benign
(Jan 24, 2018)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000692055.2
First in ClinVar: Feb 19, 2018 Last updated: Jun 23, 2018 |
|
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Likely benign
(Jan 12, 2018)
|
no assertion criteria provided
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
True Health Diagnostics
Accession: SCV000788216.1
First in ClinVar: Jul 27, 2018 Last updated: Jul 27, 2018 |
|
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Uncertain significance
(May 15, 2005)
|
no assertion criteria provided
Method: literature only
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RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000028092.4
First in ClinVar: Apr 04, 2013 Last updated: Sep 20, 2018 |
Comment on evidence:
This variant, formerly titled PEUTZ-JEGHERS SYNDROME, has been reclassified based on a review of the gnomAD database by Hamosh (2020). Forcet et al. (2005) stated … (more)
This variant, formerly titled PEUTZ-JEGHERS SYNDROME, has been reclassified based on a review of the gnomAD database by Hamosh (2020). Forcet et al. (2005) stated that a heterozygous C-to-G transversion in exon 8 of the STK11 gene, resulting in a phe354-to-leu (F354L) substitution, had been identified in a 14-year-old proband with Peutz-Jeghers syndrome (PJS; 175200). The boy displayed a large number of pigmented macules without evidence of intestinal polyps. The proband's mother, who transmitted the germline mutation, was asymptomatic. Hamosh (2020) noted that the F354L mutation was present in 1,383 of 276,376 alleles and in 17 homozygotes in the gnomAD database (March 18, 2020). (less)
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Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
Study: VKGL Data-share Consensus
Accession: SCV001808614.1 First in ClinVar: Aug 25, 2021 Last updated: Aug 25, 2021 |
|
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Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001741179.3 First in ClinVar: Jul 07, 2021 Last updated: Sep 08, 2021 |
|
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Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Clinical Genetics, Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001922872.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021 |
|
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Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001957002.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
|
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Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001973963.1 First in ClinVar: Oct 07, 2021 Last updated: Oct 07, 2021 |
|
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Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV002034303.1 First in ClinVar: Dec 18, 2021 Last updated: Dec 18, 2021 |
|
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Likely benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV002036095.1 First in ClinVar: Dec 18, 2021 Last updated: Dec 18, 2021 |
|
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not provided
(Sep 19, 2013)
|
no classification provided
Method: reference population
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AllHighlyPenetrant
Affected status: unknown
Allele origin:
germline
|
ITMI
Accession: SCV000086306.1
First in ClinVar: Jun 09, 2014 Last updated: Jun 09, 2014
Comment:
Please see associated publication for description of ethnicities
|
Observation 1:
Ethnicity/Population group: Whole_cohort
Observation 2:
Ethnicity/Population group: African
Observation 3:
Ethnicity/Population group: African_European
Observation 4:
Ethnicity/Population group: Central_Asian
Observation 5:
Ethnicity/Population group: East_Asian
Observation 6:
Ethnicity/Population group: European
Observation 7:
Ethnicity/Population group: Hispanic
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Exceptional durable response to everolimus in a patient with biphenotypic breast cancer harboring an STK11 variant. | Parachoniak CA | Cold Spring Harbor molecular case studies | 2017 | PMID: 28550065 |
Germline mutation analysis of STK11 gene using direct sequencing and multiplex ligation-dependent probe amplification assay in Korean children with Peutz-Jeghers syndrome. | Yang HR | Digestive diseases and sciences | 2010 | PMID: 20393878 |
Functional analysis of Peutz-Jeghers mutations reveals that the LKB1 C-terminal region exerts a crucial role in regulating both the AMPK pathway and the cell polarity. | Forcet C | Human molecular genetics | 2005 | PMID: 15800014 |
Hamosh, A. Personal Communication. 2020. Baltimore, Md. | - | - | - | - |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=STK11 | - | - | - | - |
Text-mined citations for rs59912467 ...
HelpRecord last updated May 01, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.