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NM_000455.5(STK11):c.1002C>T (p.Ser334=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 4, 2015
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:
RCV000420777.1

Allele description [Variation Report for NM_000455.5(STK11):c.1002C>T (p.Ser334=)]

NM_000455.5(STK11):c.1002C>T (p.Ser334=)

Genes:
LOC130062899:ATAC-STARR-seq lymphoblastoid active region 13597 [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.1002C>T (p.Ser334=)
HGVS:
  • NC_000019.10:g.1223066C>T
  • NG_007460.2:g.38660C>T
  • NM_000455.5:c.1002C>TMANE SELECT
  • NP_000446.1:p.Ser334=
  • NP_000446.1:p.Ser334=
  • LRG_319t1:c.1002C>T
  • LRG_319:g.38660C>T
  • LRG_319p1:p.Ser334=
  • NC_000019.9:g.1223065C>T
  • NM_000455.4:c.1002C>T
Links:
dbSNP: rs1057521267
NCBI 1000 Genomes Browser:
rs1057521267
Molecular consequence:
  • NM_000455.5:c.1002C>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
SCV000521982GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Dec 4, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000521982.4

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Oct 8, 2024