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NM_007194.4(CHEK2):c.590A>T (p.Lys197Ile) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 24, 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:
RCV000563898.3

Allele description [Variation Report for NM_007194.4(CHEK2):c.590A>T (p.Lys197Ile)]

NM_007194.4(CHEK2):c.590A>T (p.Lys197Ile)

Gene:
CHEK2:checkpoint kinase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q12.1
Genomic location:
Preferred name:
NM_007194.4(CHEK2):c.590A>T (p.Lys197Ile)
HGVS:
  • NC_000022.11:g.28724979T>A
  • NG_008150.2:g.21888A>T
  • NM_001005735.2:c.719A>T
  • NM_001257387.2:c.-188A>T
  • NM_001349956.2:c.445-56A>T
  • NM_007194.4:c.590A>TMANE SELECT
  • NM_145862.2:c.590A>T
  • NP_001005735.1:p.Lys240Ile
  • NP_009125.1:p.Lys197Ile
  • NP_665861.1:p.Lys197Ile
  • LRG_302t1:c.590A>T
  • LRG_302:g.21888A>T
  • LRG_302p1:p.Lys197Ile
  • NC_000022.10:g.29120967T>A
  • NG_008150.1:g.21856A>T
  • NM_007194.3:c.590A>T
Protein change:
K197I
Links:
dbSNP: rs1555926718
NCBI 1000 Genomes Browser:
rs1555926718
Molecular consequence:
  • NM_001257387.2:c.-188A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001349956.2:c.445-56A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001005735.2:c.719A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007194.4:c.590A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_145862.2:c.590A>T - missense variant - [Sequence Ontology: SO:0001583]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000669297Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 24, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV000669297.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.K197I variant (also known as c.590A>T), located in coding exon 3 of the CHEK2 gene, results from an A to T substitution at nucleotide position 590, three nucleotides upstream of the native donor splice site. The lysine at codon 197 is replaced by isoleucine, an amino acid with dissimilar properties. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice donor site; however, direct evidence is unavailable. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024