NM_007194.3(CHEK2):c.934A>G (p.Lys312Glu) AND Hereditary cancer-predisposing syndrome

This record was updated by the submitter. Please see the current version.

Clinical significance:Uncertain significance (Last evaluated: Mar 28, 2016)
Review status:1 star out of maximum of 4 stars
criteria provided, single submitter

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Based on:: 1 submission [Details]
Record status:: current
Accession:: RCV000574009.1

Allele description

NM_007194.3(CHEK2):c.934A>G (p.Lys312Glu)

Gene:

CHEK2:checkpoint kinase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.1

Genomic location:

Preferred name:

NM_007194.3(CHEK2):c.934A>G (p.Lys312Glu)

HGVS:

NC_000022.11:g.28699912T>C
NG_008150.1:g.46923A>G
NM_007194.3:c.934A>G
NP_009125.1:p.Lys312Glu
NC_000022.10:g.29095900T>C

Protein change:

K312E

Links:

dbSNP: rs1064795532

NCBI 1000 Genomes Browser:

rs1064795532

Molecular consequence:

NM_007194.3:c.934A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:: MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000669247	Ambry Genetics	criteria provided, single submitter Ambry Autosomal Dominant and X-Linked criteria (10/2015)	Uncertain significance (Mar 28, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000669247

Ambry Genetics

criteria provided, single submitter

Ambry Autosomal Dominant and X-Linked criteria (10/2015)

Uncertain significance
(Mar 28, 2016)

germline

clinical testing

Citation Link

Summary from all submissions

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Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000669247.1

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

Description

Lines of evidence used in support of classification: Insufficient or conflicting evidence

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

Last Updated: Oct 10, 2018

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