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NM_000455.5(STK11):c.898ATCCGGCAG[3] (p.300IRQ[3]) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 22, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004671367.1

Allele description [Variation Report for NM_000455.5(STK11):c.898ATCCGGCAG[3] (p.300IRQ[3])]

NM_000455.5(STK11):c.898ATCCGGCAG[3] (p.300IRQ[3])

Gene:
STK11:serine/threonine kinase 11 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_000455.5(STK11):c.898ATCCGGCAG[3] (p.300IRQ[3])
HGVS:
  • NC_000019.10:g.1221984ATCCGGCAG[3]
  • NG_007460.2:g.37578ATCCGGCAG[3]
  • NM_000455.4:c.907_915dupATCCGGCAG
  • NM_000455.5:c.898ATCCGGCAG[3]MANE SELECT
  • NP_000446.1:p.300IRQ[3]
  • LRG_319t1:c.907_915dup
  • LRG_319:g.37578ATCCGGCAG[3]
  • NC_000019.9:g.1221982_1221983insATCCGGCAG
  • NC_000019.9:g.1221983ATCCGGCAG[3]
Links:
dbSNP: rs2145428787
NCBI 1000 Genomes Browser:
rs2145428787
Molecular consequence:
  • NM_000455.5:c.898ATCCGGCAG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV005165197Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(May 22, 2024)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV005165197.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.907_915dupATCCGGCAG variant (also known as p.I303_Q305dup), located in coding exon 7 of the STK11 gene, results from an in-frame duplication of ATCCGGCAG at nucleotide positions 907 to 915. This results in the duplication of three extra residues (IRQ) between codons 303 and 305. This variant has been observed in at least one individual with a personal and/or family history that is consistent with Peutz-Jeghers syndrome (PJS) (Ambry internal data). This amino acid region is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024