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NM_000455.4(STK11):c.369G>A (p.Gln123=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Mar 14, 2019)
Last evaluated:
Mar 6, 2019
Accession:
VCV000141198.2
Variation ID:
141198
Description:
single nucleotide variant
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NM_000455.4(STK11):c.369G>A (p.Gln123=)

Allele ID
150912
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.3
Genomic location
19: 1218495 (GRCh38) GRCh38 UCSC
19: 1218494 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.1218495G>A
NC_000019.9:g.1218494G>A
NM_000455.4:c.369G>A NP_000446.1:p.Gln123= synonymous
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00619 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00149
Exome Aggregation Consortium (ExAC) 0.00186
The Genome Aggregation Database (gnomAD) 0.00618
Trans-Omics for Precision Medicine (TOPMed) 0.00665
1000 Genomes Project 0.00619
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00504
Links
ClinGen: CA022848
dbSNP: rs140112347
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts Apr 24, 2015 RCV000129594.3
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000205529.6
Benign 1 criteria provided, single submitter - RCV000246390.1
Benign 1 criteria provided, single submitter Mar 6, 2019 RCV000857757.1
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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
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000304389.1
Submitted: (Apr 28, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Peutz-Jeghers Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000410736.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Aug 05, 2014)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000184378.5
Submitted: (Jul 30, 2018)
Evidence details
Benign
(Mar 06, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000261923.6
Submitted: (Mar 14, 2019)
Evidence details
Benign
(Apr 24, 2015)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color
Accession: SCV000686640.1
Submitted: (Oct 26, 2017)
Evidence details
Likely benign
(Oct 10, 2017)
no assertion criteria provided
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
True Health Diagnostics
Accession: SCV000788218.1
Submitted: (Mar 08, 2018)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jan 20, 2020