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NM_000455.5(STK11):c.1130C>T (p.Ala377Val) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 24, 2023
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:
RCV000483853.4

Allele description [Variation Report for NM_000455.5(STK11):c.1130C>T (p.Ala377Val)]

NM_000455.5(STK11):c.1130C>T (p.Ala377Val)

Gene:
STK11:serine/threonine kinase 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_000455.5(STK11):c.1130C>T (p.Ala377Val)
HGVS:
  • NC_000019.10:g.1226475C>T
  • NG_007460.2:g.42069C>T
  • NM_000455.5:c.1130C>TMANE SELECT
  • NP_000446.1:p.Ala377Val
  • NP_000446.1:p.Ala377Val
  • LRG_319t1:c.1130C>T
  • LRG_319:g.42069C>T
  • LRG_319p1:p.Ala377Val
  • NC_000019.9:g.1226474C>T
  • NM_000455.4:c.1130C>T
  • p.A377V
Protein change:
A377V
Links:
dbSNP: rs199973552
NCBI 1000 Genomes Browser:
rs199973552
Molecular consequence:
  • NM_000455.5:c.1130C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000565600GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Uncertain significance
(Jan 24, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000565600.6

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

Description

In silico analysis supports that this missense variant does not alter protein structure/function; Observed in an individual with colorectal and endometrial cancer (Rohlin et al., 2017); This variant is associated with the following publications: (PMID: 28166811, 27696107)

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

Last Updated: Oct 8, 2024