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NM_000455.5(STK11):c.90C>T (p.Asp30=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 29, 2019
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:
RCV000780765.2

Allele description [Variation Report for NM_000455.5(STK11):c.90C>T (p.Asp30=)]

NM_000455.5(STK11):c.90C>T (p.Asp30=)

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.90C>T (p.Asp30=)
HGVS:
  • NC_000019.10:g.1207003C>T
  • NG_007460.2:g.22597C>T
  • NM_000455.5:c.90C>TMANE SELECT
  • NP_000446.1:p.Asp30=
  • NP_000446.1:p.Asp30=
  • LRG_319t1:c.90C>T
  • LRG_319:g.22597C>T
  • LRG_319p1:p.Asp30=
  • NC_000019.9:g.1207002C>T
  • NM_000455.4:c.90C>T
  • p.D30D
Links:
dbSNP: rs771765869
NCBI 1000 Genomes Browser:
rs771765869
Molecular consequence:
  • NM_000455.5:c.90C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000918282Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely benign
(Aug 29, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000918282.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024