NM_000455.5(STK11):c.1262GCA[1] (p.Ser422del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 29, 2021
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:: RCV000486911.4

Allele description [Variation Report for NM_000455.5(STK11):c.1262GCA[1] (p.Ser422del)]

NM_000455.5(STK11):c.1262GCA[1] (p.Ser422del)

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.1262GCA[1] (p.Ser422del)

HGVS:

NC_000019.10:g.1226607GCA[1]
NC_000019.9:g.1226609_1226611del
NG_007460.2:g.42201GCA[1]
NM_000455.5:c.1262GCA[1]MANE SELECT
NP_000446.1:p.Ser422del
LRG_319t1:c.1265_1267del
LRG_319:g.42201GCA[1]
NC_000019.9:g.1226604_1226606del
NC_000019.9:g.1226606GCA[1]
NC_000019.9:g.1226609_1226611del
NM_000455.4:c.1265_1267del
NM_000455.4:c.1265_1267delGCA
NM_000455.5:c.1265_1267delMANE SELECT
p.S422del

Protein change:

S422del

Links:

dbSNP: rs587782439

NCBI 1000 Genomes Browser:

rs587782439

Molecular consequence:

NM_000455.5:c.1262GCA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000570573	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Dec 29, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000570573

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Dec 29, 2021)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000570573.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Not observed at significant frequency in large population cohorts (Lek et al., 2016); In-frame deletion of one amino acids in a non-repeat region; In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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