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

Clinical significance:Uncertain significance (Last evaluated: Mar 28, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

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:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000669247Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Mar 28, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000669247.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

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

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 10, 2018