NM_000455.5(STK11):c.1040_1045del (p.Ala347_Asp348del) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 10, 2022
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:: RCV002393500.2

Allele description [Variation Report for NM_000455.5(STK11):c.1040_1045del (p.Ala347_Asp348del)]

NM_000455.5(STK11):c.1040_1045del (p.Ala347_Asp348del)

Genes:

LOC130062899:ATAC-STARR-seq lymphoblastoid active region 13597 [Gene]
STK11:serine/threonine kinase 11 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

19p13.3

Genomic location:

Preferred name:

NM_000455.5(STK11):c.1040_1045del (p.Ala347_Asp348del)

HGVS:

NC_000019.10:g.1223104_1223109del
NG_007460.2:g.38698_38703del
NM_000455.5:c.1040_1045delMANE SELECT
NP_000446.1:p.Ala347_Asp348del
LRG_319t1:c.1040_1045del
LRG_319:g.38698_38703del
NC_000019.9:g.1223101_1223106del
NC_000019.9:g.1223103_1223108del
NM_000455.4:c.1040_1045del
NM_000455.4:c.1040_1045delCGGACG

Links:

dbSNP: rs2080797182

NCBI 1000 Genomes Browser:

rs2080797182

Molecular consequence:

NM_000455.5:c.1040_1045del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002698774	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 10, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002698774

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 10, 2022)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002698774.2

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

Description

The c.1040_1045delCGGACG variant (also known as p.A347_D348del) is located in coding exon 8 of the STK11 gene. This variant results from an in-frame CGGACG deletion at nucleotide positions 1040 to 1045. This results in the in-frame deletion of an alanine and an aspartic acid at codon positions 347 and 348, respectively. The deleted amino acid positions are poorly conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 8, 2024

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