NM_000455.4(STK11):c.841_842delCC (p.Pro281Alafs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Apr 13, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000485596.1

Allele description [Variation Report for NM_000455.4(STK11):c.841_842delCC (p.Pro281Alafs)]

NM_000455.4(STK11):c.841_842delCC (p.Pro281Alafs)

Gene:
STK11:serine/threonine kinase 11 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_000455.4(STK11):c.841_842delCC (p.Pro281Alafs)
HGVS:
  • NC_000019.10:g.1221319_1221320delCC
  • NG_007460.2:g.36913_36914delCC
  • NM_000455.4:c.841_842delCC
  • NP_000446.1:p.Pro281Alafs
  • LRG_319t1:c.841_842delCC
  • LRG_319:g.36913_36914delCC
  • LRG_319p1:p.Pro281Alafs
  • NC_000019.9:g.1221318_1221319delCC
  • NM_000455.4:c.838_839delCC
Links:
dbSNP: rs1064796831; dbSNP: rs876661101
NCBI 1000 Genomes Browser:
rs1064796831
Molecular consequence:
  • NM_000455.4:c.841_842delCC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000573939GeneDxcriteria provided, single submitter
Pathogenic
(Apr 13, 2017)
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, SCV000573939.3

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

Description

The c.841_842delCC variant in the STK11 gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This deletion causes a frameshift starting with codon Proline 281, changes this amino acid to an Alanine residue and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Pro281AlafsX3. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence, we consider c.841_842delCC to be pathogenic.

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

Last Updated: Nov 3, 2018