NM_000455.5(STK11):c.464+20del AND not specified

Germline classification:: Benign (1 submission)
Last evaluated:: Dec 20, 2017
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:: RCV000679318.5

Allele description [Variation Report for NM_000455.5(STK11):c.464+20del]

NM_000455.5(STK11):c.464+20del

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.464+20del

HGVS:

NC_000019.10:g.1219433del
NG_007460.2:g.35027del
NG_053048.1:g.1_3=
NM_000455.5:c.464+20delMANE SELECT
LRG_319:g.35027del
NC_000019.9:g.1219429del
NC_000019.9:g.1219432del
NM_000455.4:c.464+20delG

Links:

dbSNP: rs730881960

NCBI 1000 Genomes Browser:

rs730881960

Molecular consequence:

NM_000455.5:c.464+20del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Homo sapiens neurotrophin 4 (NTF4), RefSeqGene on chromosome 19
Homo sapiens neurotrophin 4 (NTF4), RefSeqGene on chromosome 19
gi|2310183797|ref|NG_016289.2|

Nucleotide
Nucleotide Links for Protein (Select 2024344277) (2)
Nucleotide
Glaucoma 1, open angle, O
Glaucoma 1, open angle, O

MedGen
MedGen for Gene (Select 4909) (1)
MedGen
OMIM Links for Gene (Select 4909) (2)
OMIM

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000806079	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Dec 20, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000806079

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Dec 20, 2017)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV000806079.1

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

#	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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