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NM_000455.4(STK11):c.976C>A (p.Pro326Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Mar 28, 2019)
Last evaluated:
Dec 25, 2018
Accession:
VCV000184692.4
Variation ID:
184692
Description:
single nucleotide variant
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NM_000455.4(STK11):c.976C>A (p.Pro326Thr)

Allele ID
185525
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.3
Genomic location
19: 1223040 (GRCh38) GRCh38 UCSC
19: 1223039 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.1223040C>A
NC_000019.9:g.1223039C>A
NM_000455.4:c.976C>A NP_000446.1:p.Pro326Thr missense
... more HGVS
Protein change
P326T
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA023391
dbSNP: rs771632414
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Jul 30, 2018 RCV000163989.4
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Dec 25, 2018 RCV000553557.3
Uncertain significance 1 criteria provided, single submitter Mar 1, 2017 RCV000217261.2
Uncertain significance 1 criteria provided, single submitter Nov 24, 2015 RCV000766875.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
STK11 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1276 1331

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 01, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000602248.1
Submitted: (Aug 01, 2017)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Jun 02, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000214589.5
Submitted: (Jul 30, 2018)
Evidence details
Comment:
Lines of evidence used in support of classification: Insufficient or conflicting evidence
Uncertain significance
(Nov 24, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000279185.9
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This variant is denoted STK11 c.976C>A at the cDNA level, p.Pro326Thr (P326T) at the protein level, and results in the change of a Proline to ... (more)
Uncertain significance
(Feb 01, 2018)
criteria provided, single submitter
Method: clinical testing
Peutz-Jeghers syndrome
Allele origin: unknown
Counsyl
Accession: SCV000786018.2
Submitted: (Jun 20, 2018)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Jul 30, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color
Accession: SCV000910056.1
Submitted: (Nov 06, 2018)
Evidence details
Uncertain significance
(Dec 25, 2018)
criteria provided, single submitter
Method: clinical testing
Peutz-Jeghers syndrome
Allele origin: germline
Invitae
Accession: SCV000629164.3
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces proline with threonine at codon 326 of the STK11 protein (p.Pro326Thr). The proline residue is moderately conserved and there is a ... (more)

Citations for this variant

Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer. Maxwell KN Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25503501

Record last updated Oct 27, 2019